{"id":"https://openalex.org/W2557385283","doi":"https://doi.org/10.1093/nar/gkw1039","title":"The Human Phenotype Ontology in 2017","display_name":"The Human Phenotype Ontology in 2017","publication_year":2016,"publication_date":"2016-11-28","ids":{"openalex":"https://openalex.org/W2557385283","doi":"https://doi.org/10.1093/nar/gkw1039","mag":"2557385283","pmid":"https://pubmed.ncbi.nlm.nih.gov/27899602"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkw1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkw1039","pdf_url":"https://academic.oup.com/nar/article-pdf/45/D1/D865/8846656/gkw1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"review","indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/45/D1/D865/8846656/gkw1039.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047602412","display_name":"Sebastian K\u00f6hler","orcid":"https://orcid.org/0000-0002-5316-1399"},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sebastian K\u00f6hler","raw_affiliation_strings":["Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com","Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com","institution_ids":["https://openalex.org/I7877124"]},{"raw_affiliation_string":"Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041814853","display_name":"Nicole Vasilevsky","orcid":"https://orcid.org/0000-0001-5208-3432"},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicole A. Vasilevsky","raw_affiliation_strings":["Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA"],"affiliations":[{"raw_affiliation_string":"Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040450661","display_name":"Mark Engelstad","orcid":"https://orcid.org/0000-0001-5889-4463"},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark Engelstad","raw_affiliation_strings":["Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA"],"affiliations":[{"raw_affiliation_string":"Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042835449","display_name":"Erin D. Foster","orcid":"https://orcid.org/0000-0001-6908-9849"},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Foster","raw_affiliation_strings":["Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA"],"affiliations":[{"raw_affiliation_string":"Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050577151","display_name":"Julie A. McMurry","orcid":"https://orcid.org/0000-0002-9353-5498"},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie McMurry","raw_affiliation_strings":["Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA"],"affiliations":[{"raw_affiliation_string":"Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110448858","display_name":"S\u00e9gol\u00e8ne Aym\u00e9","orcid":null},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S\u00e9gol\u00e8ne Aym\u00e9","raw_affiliation_strings":["Institut du Cerveau et de la Moelle \u00e9pini\u00e8re-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 47, bd de l'H\u00f4pital, 75013 Paris, France","Institut du Cerveau et de la Moelle \u00e9pini\u00e8re\u2014ICM, CNRS UMR 7225\u2014Inserm U 1127\u2014UPMC-P6 UMR S 1127, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 47, bd de l'H\u00f4pital, 75013 Paris, France"],"affiliations":[{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 47, bd de l'H\u00f4pital, 75013 Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724","https://openalex.org/I1294671590"]},{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re\u2014ICM, CNRS UMR 7225\u2014Inserm U 1127\u2014UPMC-P6 UMR S 1127, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 47, bd de l'H\u00f4pital, 75013 Paris, France","institution_ids":["https://openalex.org/I4210152724","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089939981","display_name":"Gareth Baynam","orcid":null},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799506148","display_name":"Government of Western Australia","ror":"https://ror.org/00wqdbc63","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148"]},{"id":"https://openalex.org/I2800882159","display_name":"Government of Western Australia Department of Health","ror":"https://ror.org/01epcny94","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800882159"]},{"id":"https://openalex.org/I2801351171","display_name":"King Edward Memorial Hospital","ror":"https://ror.org/00ns3e792","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801351171"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Gareth Baynam","raw_affiliation_strings":["School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia","Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia"],"affiliations":[{"raw_affiliation_string":"School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia","institution_ids":["https://openalex.org/I2801351171","https://openalex.org/I2799506148","https://openalex.org/I2800882159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084390524","display_name":"Susan M. Bello","orcid":"https://orcid.org/0000-0003-4606-0597"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan M. Bello","raw_affiliation_strings":["The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091622048","display_name":"Cornelius F. Boerkoel","orcid":"https://orcid.org/0000-0003-3097-241X"},"institutions":[{"id":"https://openalex.org/I1305840828","display_name":"Sanford Health","ror":"https://ror.org/003smky23","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1305840828"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cornelius F. Boerkoel","raw_affiliation_strings":["Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA"],"affiliations":[{"raw_affiliation_string":"Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA","institution_ids":["https://openalex.org/I1305840828"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065051535","display_name":"Kym M. Boycott","orcid":"https://orcid.org/0000-0003-4186-8052"},"institutions":[{"id":"https://openalex.org/I153718931","display_name":"University of Ottawa","ror":"https://ror.org/03c4mmv16","country_code":"CA","type":"education","lineage":["https://openalex.org/I153718931"]},{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Kym M. Boycott","raw_affiliation_strings":["Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"],"affiliations":[{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada","institution_ids":["https://openalex.org/I2799330578","https://openalex.org/I153718931"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012113499","display_name":"Michael Brudno","orcid":"https://orcid.org/0000-0001-7947-2243"},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]},{"id":"https://openalex.org/I4210141030","display_name":"SickKids Foundation","ror":"https://ror.org/04374qe70","country_code":"CA","type":"funder","lineage":["https://openalex.org/I4210141030"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michael Brudno","raw_affiliation_strings":["Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada","institution_ids":["https://openalex.org/I185261750","https://openalex.org/I2801317318","https://openalex.org/I4210141030"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087171516","display_name":"Orion J. Buske","orcid":"https://orcid.org/0000-0002-9064-092X"},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]},{"id":"https://openalex.org/I4210141030","display_name":"SickKids Foundation","ror":"https://ror.org/04374qe70","country_code":"CA","type":"funder","lineage":["https://openalex.org/I4210141030"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Orion J. Buske","raw_affiliation_strings":["Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada","institution_ids":["https://openalex.org/I185261750","https://openalex.org/I2801317318","https://openalex.org/I4210141030"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013583757","display_name":"Patrick F. Chinnery","orcid":"https://orcid.org/0000-0002-7065-6617"},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Patrick F. Chinnery","raw_affiliation_strings":["Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK","NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK"],"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091873076","display_name":"Valentina Cipriani","orcid":"https://orcid.org/0000-0002-0839-9955"},"institutions":[{"id":"https://openalex.org/I4210131026","display_name":"Institute of Ophthalmology","ror":"https://ror.org/036awca68","country_code":"MX","type":"nonprofit","lineage":["https://openalex.org/I4210131026"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","MX"],"is_corresponding":false,"raw_author_name":"Valentina Cipriani","raw_affiliation_strings":["UCL Genetics Institute, University College London, London WC1E 6BT, UK","UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK","UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11\u201343 Bath Street, London EC1V 9EL, UK"],"affiliations":[{"raw_affiliation_string":"UCL Genetics Institute, University College London, London WC1E 6BT, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK","institution_ids":["https://openalex.org/I4210131026","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11\u201343 Bath Street, London EC1V 9EL, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079986964","display_name":"Laureen E. Connell","orcid":null},"institutions":[{"id":"https://openalex.org/I2750212522","display_name":"Cold Spring Harbor Laboratory","ror":"https://ror.org/02qz8b764","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2750212522"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laureen E. Connell","raw_affiliation_strings":["Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA"],"affiliations":[{"raw_affiliation_string":"Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA","institution_ids":["https://openalex.org/I2750212522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110914998","display_name":"Hugh Dawkins","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hugh J.S. Dawkins","raw_affiliation_strings":["Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia"],"affiliations":[{"raw_affiliation_string":"Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047269167","display_name":"Laura E. DeMare","orcid":null},"institutions":[{"id":"https://openalex.org/I2750212522","display_name":"Cold Spring Harbor Laboratory","ror":"https://ror.org/02qz8b764","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2750212522"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura E. DeMare","raw_affiliation_strings":["Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA"],"affiliations":[{"raw_affiliation_string":"Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA","institution_ids":["https://openalex.org/I2750212522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019045189","display_name":"A. Devereau","orcid":"https://orcid.org/0000-0003-0356-1519"},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4210143578","display_name":"Genomics England","ror":"https://ror.org/04rxxfz69","country_code":"GB","type":"other","lineage":["https://openalex.org/I1311074006","https://openalex.org/I4210143578"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew D. Devereau","raw_affiliation_strings":["Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK"],"affiliations":[{"raw_affiliation_string":"Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK","institution_ids":["https://openalex.org/I4210143578","https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071264188","display_name":"Bert B.A. de Vries","orcid":"https://orcid.org/0000-0002-0000-2917"},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Bert\u00a0B.A. de\u00a0Vries","raw_affiliation_strings":["Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049698135","display_name":"Helen V. Firth","orcid":"https://orcid.org/0000-0002-6410-0882"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Helen V. Firth","raw_affiliation_strings":["Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK"],"affiliations":[{"raw_affiliation_string":"Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064832605","display_name":"Kathleen Freson","orcid":"https://orcid.org/0000-0002-4381-2442"},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Kathleen Freson","raw_affiliation_strings":["Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082420062","display_name":"Daniel Greene","orcid":"https://orcid.org/0000-0003-2576-8588"},"institutions":[{"id":"https://openalex.org/I1307946715","display_name":"NHS Blood and Transplant","ror":"https://ror.org/0227qpa16","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1307946715"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210134973","display_name":"MRC Biostatistics Unit","ror":"https://ror.org/046vje122","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I4210134973","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Daniel Greene","raw_affiliation_strings":["Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK","Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK"],"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK","institution_ids":["https://openalex.org/I1307946715","https://openalex.org/I241749"]},{"raw_affiliation_string":"Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I4210134973","https://openalex.org/I90344618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031611329","display_name":"Ada Hamosh","orcid":"https://orcid.org/0000-0002-1780-5230"},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ada Hamosh","raw_affiliation_strings":["McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA"],"affiliations":[{"raw_affiliation_string":"McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA","institution_ids":["https://openalex.org/I2799853436","https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102859760","display_name":"Ingo Helbig","orcid":"https://orcid.org/0000-0001-8486-0558"},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I4210112713","display_name":"University Hospital Schleswig-Holstein","ror":"https://ror.org/01tvm6f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210112713"]},{"id":"https://openalex.org/I9341345","display_name":"University of L\u00fcbeck","ror":"https://ror.org/00t3r8h32","country_code":"DE","type":"education","lineage":["https://openalex.org/I9341345"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Ingo Helbig","raw_affiliation_strings":["Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany","Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA"],"affiliations":[{"raw_affiliation_string":"Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany","institution_ids":["https://openalex.org/I4210112713","https://openalex.org/I9341345"]},{"raw_affiliation_string":"Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074386141","display_name":"Courtney Hum","orcid":"https://orcid.org/0000-0002-0003-6754"},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Courtney Hum","raw_affiliation_strings":["Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada"],"affiliations":[{"raw_affiliation_string":"Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109829787","display_name":"Johanna J\u00e4hn","orcid":null},"institutions":[{"id":"https://openalex.org/I4210112713","display_name":"University Hospital Schleswig-Holstein","ror":"https://ror.org/01tvm6f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210112713"]},{"id":"https://openalex.org/I9341345","display_name":"University of L\u00fcbeck","ror":"https://ror.org/00t3r8h32","country_code":"DE","type":"education","lineage":["https://openalex.org/I9341345"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Johanna A. J\u00e4hn","raw_affiliation_strings":["Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany","institution_ids":["https://openalex.org/I4210112713","https://openalex.org/I9341345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054177586","display_name":"Roger James","orcid":"https://orcid.org/0000-0002-0058-1357"},"institutions":[{"id":"https://openalex.org/I4210134973","display_name":"MRC Biostatistics Unit","ror":"https://ror.org/046vje122","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I4210134973","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Roger James","raw_affiliation_strings":["Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK","NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK"],"affiliations":[{"raw_affiliation_string":"Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I4210134973","https://openalex.org/I90344618"]},{"raw_affiliation_string":"NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061416344","display_name":"Roland Krause","orcid":"https://orcid.org/0000-0001-9938-7126"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Roland Krause","raw_affiliation_strings":["LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg"],"affiliations":[{"raw_affiliation_string":"LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037400577","display_name":"Stanley J. F. Laulederkind","orcid":"https://orcid.org/0000-0001-5356-4174"},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stanley J. F.\u00a0Laulederkind","raw_affiliation_strings":["Human and Molecular Genetics Center, Medical College of Wisconsin, USA"],"affiliations":[{"raw_affiliation_string":"Human and Molecular Genetics Center, Medical College of Wisconsin, USA","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062908694","display_name":"Hanns Lochm\u00fcller","orcid":"https://orcid.org/0000-0003-2324-8001"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hanns Lochm\u00fcller","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK"],"affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008798496","display_name":"Gholson J. Lyon","orcid":"https://orcid.org/0000-0002-5869-0716"},"institutions":[{"id":"https://openalex.org/I2750212522","display_name":"Cold Spring Harbor Laboratory","ror":"https://ror.org/02qz8b764","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2750212522"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gholson J. Lyon","raw_affiliation_strings":["Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA"],"affiliations":[{"raw_affiliation_string":"Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA","institution_ids":["https://openalex.org/I2750212522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049356235","display_name":"Soichi Ogishima","orcid":"https://orcid.org/0000-0001-8613-2562"},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]},{"id":"https://openalex.org/I4210136366","display_name":"Tohoku Medical Megabank Organization","ror":"https://ror.org/03zzyap02","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210136366"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Soichi Ogishima","raw_affiliation_strings":["Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan"],"affiliations":[{"raw_affiliation_string":"Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan","institution_ids":["https://openalex.org/I4210136366","https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008824060","display_name":"Annie Olry","orcid":null},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210133579","display_name":"Orphanet","ror":"https://ror.org/03d3kf570","country_code":"FR","type":"other","lineage":["https://openalex.org/I4210133579"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Annie Olry","raw_affiliation_strings":["Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","Orphanet\u2014INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France"],"affiliations":[{"raw_affiliation_string":"Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Orphanet\u2014INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","institution_ids":["https://openalex.org/I4210133579","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014699562","display_name":"Willem H. Ouwehand","orcid":"https://orcid.org/0000-0002-7744-1790"},"institutions":[{"id":"https://openalex.org/I4210134973","display_name":"MRC Biostatistics Unit","ror":"https://ror.org/046vje122","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I4210134973","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Willem H. Ouwehand","raw_affiliation_strings":["Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK"],"affiliations":[{"raw_affiliation_string":"Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I4210134973","https://openalex.org/I90344618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083903120","display_name":"Nikolas Pontikos","orcid":"https://orcid.org/0000-0003-1782-4711"},"institutions":[{"id":"https://openalex.org/I4210131026","display_name":"Institute of Ophthalmology","ror":"https://ror.org/036awca68","country_code":"MX","type":"nonprofit","lineage":["https://openalex.org/I4210131026"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","MX"],"is_corresponding":false,"raw_author_name":"Nikolas Pontikos","raw_affiliation_strings":["UCL Genetics Institute, University College London, London WC1E 6BT, UK","UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK","UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11\u201343 Bath Street, London EC1V 9EL, UK"],"affiliations":[{"raw_affiliation_string":"UCL Genetics Institute, University College London, London WC1E 6BT, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK","institution_ids":["https://openalex.org/I4210131026","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11\u201343 Bath Street, London EC1V 9EL, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020619492","display_name":"Ana Rath","orcid":"https://orcid.org/0000-0003-4308-6337"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210133579","display_name":"Orphanet","ror":"https://ror.org/03d3kf570","country_code":"FR","type":"other","lineage":["https://openalex.org/I4210133579"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ana Rath","raw_affiliation_strings":["Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","Orphanet\u2014INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France"],"affiliations":[{"raw_affiliation_string":"Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Orphanet\u2014INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France","institution_ids":["https://openalex.org/I4210133579","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031224280","display_name":"Franz Schaefer","orcid":null},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I2802164966","display_name":"University Hospital Heidelberg","ror":"https://ror.org/013czdx64","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2802164966"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Franz Schaefer","raw_affiliation_strings":["Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany"],"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I2802164966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021709237","display_name":"Richard H. Scott","orcid":"https://orcid.org/0000-0002-9113-2978"},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4210143578","display_name":"Genomics England","ror":"https://ror.org/04rxxfz69","country_code":"GB","type":"other","lineage":["https://openalex.org/I1311074006","https://openalex.org/I4210143578"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Richard H. Scott","raw_affiliation_strings":["Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK"],"affiliations":[{"raw_affiliation_string":"Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK","institution_ids":["https://openalex.org/I4210143578","https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000859866","display_name":"Michael M. Segal","orcid":"https://orcid.org/0000-0002-2487-6221"},"institutions":[{"id":"https://openalex.org/I4210118951","display_name":"Craft Engineering Associates (United States)","ror":"https://ror.org/02b3gqy34","country_code":"US","type":"company","lineage":["https://openalex.org/I4210118951"]},{"id":"https://openalex.org/I4210135407","display_name":"SimulConsult","ror":"https://ror.org/031gdw727","country_code":"US","type":"company","lineage":["https://openalex.org/I4210135407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Segal","raw_affiliation_strings":["SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA"],"affiliations":[{"raw_affiliation_string":"SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA","institution_ids":["https://openalex.org/I4210135407","https://openalex.org/I4210118951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085779691","display_name":"Panagiotis I. Sergouniotis","orcid":null},"institutions":[{"id":"https://openalex.org/I2801704036","display_name":"Manchester Royal Eye Hospital","ror":"https://ror.org/04xtpk854","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801704036","https://openalex.org/I4210092852","https://openalex.org/I4210166818"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Panagiotis I. Sergouniotis","raw_affiliation_strings":["Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK"],"affiliations":[{"raw_affiliation_string":"Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029475868","display_name":"Richard Sever","orcid":"https://orcid.org/0000-0001-6478-931X"},"institutions":[{"id":"https://openalex.org/I2750212522","display_name":"Cold Spring Harbor Laboratory","ror":"https://ror.org/02qz8b764","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2750212522"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Sever","raw_affiliation_strings":["Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA"],"affiliations":[{"raw_affiliation_string":"Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA","institution_ids":["https://openalex.org/I2750212522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085879565","display_name":"Cynthia L. Smith","orcid":"https://orcid.org/0000-0003-3691-0324"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cynthia L. Smith","raw_affiliation_strings":["The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023248855","display_name":"Volker Straub","orcid":"https://orcid.org/0000-0001-9046-3540"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Volker Straub","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK"],"affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050230263","display_name":"Rachel Thompson","orcid":"https://orcid.org/0000-0002-6889-0121"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rachel Thompson","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK"],"affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035061759","display_name":"C. Turner","orcid":"https://orcid.org/0000-0001-6674-6970"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine Turner","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK"],"affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010947173","display_name":"Ernest Turro","orcid":"https://orcid.org/0000-0002-1820-6563"},"institutions":[{"id":"https://openalex.org/I1307946715","display_name":"NHS Blood and Transplant","ror":"https://ror.org/0227qpa16","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1307946715"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210134973","display_name":"MRC Biostatistics Unit","ror":"https://ror.org/046vje122","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I4210134973","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ernest Turro","raw_affiliation_strings":["Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK","Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK"],"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK","institution_ids":["https://openalex.org/I1307946715","https://openalex.org/I241749"]},{"raw_affiliation_string":"Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I4210134973","https://openalex.org/I90344618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052347527","display_name":"Marijcke W. M. Veltman","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marijcke W.M. Veltman","raw_affiliation_strings":["NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK"],"affiliations":[{"raw_affiliation_string":"NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113557896","display_name":"Tom Vulliamy","orcid":null},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Tom Vulliamy","raw_affiliation_strings":["Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK"],"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK","institution_ids":["https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076949421","display_name":"Jing Yu","orcid":"https://orcid.org/0000-0001-8001-8494"},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jing Yu","raw_affiliation_strings":["Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK"],"affiliations":[{"raw_affiliation_string":"Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090876831","display_name":"Julie von Ziegenweidt","orcid":"https://orcid.org/0000-0001-8776-1125"},"institutions":[{"id":"https://openalex.org/I1307946715","display_name":"NHS Blood and Transplant","ror":"https://ror.org/0227qpa16","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1307946715"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julie von\u00a0Ziegenweidt","raw_affiliation_strings":["Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK"],"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK","institution_ids":["https://openalex.org/I1307946715","https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055744879","display_name":"Andreas Zankl","orcid":"https://orcid.org/0000-0001-8612-1062"},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I4210149013","display_name":"Sydney Children\u2019s Hospitals Network","ror":"https://ror.org/04d87y574","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210149013"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Andreas Zankl","raw_affiliation_strings":["Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia","Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Australia"],"affiliations":[{"raw_affiliation_string":"Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia","institution_ids":["https://openalex.org/I4210149013"]},{"raw_affiliation_string":"Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Australia","institution_ids":["https://openalex.org/I129604602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031669486","display_name":"Stephan Z\u00fcchner","orcid":"https://orcid.org/0000-0002-8498-5235"},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephan Z\u00fcchner","raw_affiliation_strings":["JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA"],"affiliations":[{"raw_affiliation_string":"JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051777669","display_name":"Tomasz \u017bemojtel","orcid":"https://orcid.org/0000-0002-3794-7623"},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tomasz Zemojtel","raw_affiliation_strings":["Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Genetics and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081977290","display_name":"Julius O.B. Jacobsen","orcid":"https://orcid.org/0000-0002-3265-1591"},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4210143578","display_name":"Genomics England","ror":"https://ror.org/04rxxfz69","country_code":"GB","type":"other","lineage":["https://openalex.org/I1311074006","https://openalex.org/I4210143578"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julius O.B. Jacobsen","raw_affiliation_strings":["Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK"],"affiliations":[{"raw_affiliation_string":"Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK","institution_ids":["https://openalex.org/I4210143578","https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011041769","display_name":"Tudor Groza","orcid":"https://orcid.org/0000-0003-2267-8333"},"institutions":[{"id":"https://openalex.org/I136750679","display_name":"Garvan Institute of Medical Research","ror":"https://ror.org/01b3dvp57","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I136750679","https://openalex.org/I4210087284"]},{"id":"https://openalex.org/I4210123488","display_name":"St Vincent's Clinic","ror":"https://ror.org/02rthxz10","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210123488"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Tudor Groza","raw_affiliation_strings":["Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia","St Vincent's Clinical School, Faculty of Medicine, UNSW Australia"],"affiliations":[{"raw_affiliation_string":"Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia","institution_ids":["https://openalex.org/I136750679"]},{"raw_affiliation_string":"St Vincent's Clinical School, Faculty of Medicine, UNSW Australia","institution_ids":["https://openalex.org/I4210123488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009950897","display_name":"Damian Smedley","orcid":"https://orcid.org/0000-0002-5836-9850"},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4210143578","display_name":"Genomics England","ror":"https://ror.org/04rxxfz69","country_code":"GB","type":"other","lineage":["https://openalex.org/I1311074006","https://openalex.org/I4210143578"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Damian Smedley","raw_affiliation_strings":["Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK"],"affiliations":[{"raw_affiliation_string":"Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK","institution_ids":["https://openalex.org/I4210143578","https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002223413","display_name":"Chris Mungall","orcid":"https://orcid.org/0000-0002-6601-2165"},"institutions":[{"id":"https://openalex.org/I148283060","display_name":"Lawrence Berkeley National Laboratory","ror":"https://ror.org/02jbv0t02","country_code":"US","type":"facility","lineage":["https://openalex.org/I1330989302","https://openalex.org/I148283060","https://openalex.org/I39565521"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher J. Mungall","raw_affiliation_strings":["Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA"],"affiliations":[{"raw_affiliation_string":"Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA","institution_ids":["https://openalex.org/I148283060"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064320417","display_name":"Melissa Haendel","orcid":"https://orcid.org/0000-0001-9114-8737"},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa Haendel","raw_affiliation_strings":["Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA"],"affiliations":[{"raw_affiliation_string":"Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033225381","display_name":"Peter N. Robinson","orcid":"https://orcid.org/0000-0002-0736-9199"},"institutions":[{"id":"https://openalex.org/I140172145","display_name":"University of Connecticut","ror":"https://ror.org/02der9h97","country_code":"US","type":"education","lineage":["https://openalex.org/I140172145"]},{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Peter N. Robinson","raw_affiliation_strings":["Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA","The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA peter.robinson@jax.org","The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA"],"affiliations":[{"raw_affiliation_string":"Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA","institution_ids":["https://openalex.org/I140172145"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA peter.robinson@jax.org","institution_ids":["https://openalex.org/I4210115256"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA","institution_ids":["https://openalex.org/I4210115256"]}]}],"institutions":[],"countries_distinct_count":11,"institutions_distinct_count":59,"corresponding_author_ids":["https://openalex.org/A5033225381"],"corresponding_institution_ids":["https://openalex.org/I140172145","https://openalex.org/I4210115256"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":70.7754,"has_fulltext":true,"cited_by_count":796,"citation_normalized_percentile":{"value":0.99959967,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"45","issue":"D1","first_page":"D865","last_page":"D876"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9991999864578247,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9934999942779541,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.7319389581680298},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6774425506591797},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.581375002861023},{"id":"https://openalex.org/keywords/ontology","display_name":"Ontology","score":0.5740811824798584},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"Clinical phenotype","score":0.5306785702705383},{"id":"https://openalex.org/keywords/terminology","display_name":"Terminology","score":0.5195363163948059},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.4731258749961853},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4274541437625885},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.41620656847953796},{"id":"https://openalex.org/keywords/controlled-vocabulary","display_name":"Controlled vocabulary","score":0.41422903537750244},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.34678906202316284},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.27933600544929504},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.22578215599060059},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.20802348852157593},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.1487177014350891},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.13391700387001038},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.09240585565567017}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7319389581680298},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6774425506591797},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.581375002861023},{"id":"https://openalex.org/C25810664","wikidata":"https://www.wikidata.org/wiki/Q44325","display_name":"Ontology","level":2,"score":0.5740811824798584},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.5306785702705383},{"id":"https://openalex.org/C547195049","wikidata":"https://www.wikidata.org/wiki/Q1725664","display_name":"Terminology","level":2,"score":0.5195363163948059},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.4731258749961853},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4274541437625885},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.41620656847953796},{"id":"https://openalex.org/C110615152","wikidata":"https://www.wikidata.org/wiki/Q1469824","display_name":"Controlled vocabulary","level":2,"score":0.41422903537750244},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.34678906202316284},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27933600544929504},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.22578215599060059},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20802348852157593},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.1487177014350891},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.13391700387001038},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.09240585565567017},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057170","descriptor_name":"Translational Research, Biomedical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057170","descriptor_name":"Translational Research, Biomedical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057170","descriptor_name":"Translational Research, Biomedical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057170","descriptor_name":"Translational Research, Biomedical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D064229","descriptor_name":"Biological Ontologies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D064229","descriptor_name":"Biological Ontologies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D064229","descriptor_name":"Biological Ontologies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D064229","descriptor_name":"Biological Ontologies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":20,"locations":[{"id":"doi:10.1093/nar/gkw1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkw1039","pdf_url":"https://academic.oup.com/nar/article-pdf/45/D1/D865/8846656/gkw1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:27899602","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27899602","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/559255","is_oa":true,"landing_page_url":"https://lirias.kuleuven.be/handle/123456789/559255","pdf_url":null,"source":{"id":"https://openalex.org/S4306401954","display_name":"Lirias (KU Leuven)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I99464096","host_organization_name":"KU Leuven","host_organization_lineage":["https://openalex.org/I99464096"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Nucleic Acids Research, vol. 45 (D1), Art.No. gkw1039, (D865-D876)","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:osti.gov:1408411","is_oa":true,"landing_page_url":"https://www.osti.gov/biblio/1408411","pdf_url":"https://www.osti.gov/servlets/purl/1408411","source":{"id":"https://openalex.org/S4306402487","display_name":"OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I139351228","host_organization_name":"Office of Scientific and Technical Information","host_organization_lineage":["https://openalex.org/I139351228"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},{"id":"pmh:ark:/13030/qt2w17n1nt","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},{"id":"pmh:oai:HAL:hal-04412294v1","is_oa":true,"landing_page_url":"https://hal.sorbonne-universite.fr/hal-04412294","pdf_url":null,"source":{"id":"https://openalex.org/S4406922466","display_name":"SPIRE - Sciences Po Institutional REpository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 2017, 45 (D1), pp.D865-D876. &#x27E8;10.1093/nar/gkw1039&#x27E9;","raw_type":"Journal articles"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1532749","is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/1532749/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"   Nucleic Acids Research , 45  (D1)   D865-D876.   (2017)      ","raw_type":"Article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt2w17n1nt","is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/2w17n1nt","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic acids research, vol 45, iss D1","raw_type":"article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt8zg6p5jr","is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/8zg6p5jr","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic acids research, vol 49, iss D1","raw_type":"article"},{"id":"pmh:oai:mouseion.jax.org:stfb2017-1012","is_oa":false,"landing_page_url":"https://mouseion.jax.org/stfb2017/8","pdf_url":null,"source":{"id":"https://openalex.org/S4377196421","display_name":"The Mouseion at the JAXlibrary (Jackson Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210115256","host_organization_name":"Jackson Laboratory","host_organization_lineage":["https://openalex.org/I4210115256"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty Research 2017","raw_type":"text"},{"id":"pmh:oai:mouseion.jax.org:stfb2021-1018","is_oa":false,"landing_page_url":"https://mouseion.jax.org/stfb2021/18","pdf_url":null,"source":{"id":"https://openalex.org/S4377196421","display_name":"The Mouseion at the JAXlibrary (Jackson Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210115256","host_organization_name":"Jackson Laboratory","host_organization_lineage":["https://openalex.org/I4210115256"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty Research 2021","raw_type":"text"},{"id":"pmh:oai:orbilu.uni.lu:10993/45306","is_oa":true,"landing_page_url":"http://orbilu.uni.lu/handle/10993/45306","pdf_url":null,"source":{"id":"https://openalex.org/S4306401815","display_name":"Open Repository and Bibliography (University of Luxembourg)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I186903577","host_organization_name":"University of Luxembourg","host_organization_lineage":["https://openalex.org/I186903577"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:5210535","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5210535","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmh:oai:pure.atira.dk:publications/0ce830ce-248f-46cd-b9e4-fd4778732624","is_oa":true,"landing_page_url":"http://www.scopus.com/inward/record.url?scp=85099428360&partnerID=8YFLogxK","pdf_url":null,"source":{"id":"https://openalex.org/S4306402523","display_name":"UWA Profiles and Research Repository (University of Western Australia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"K\u00f6hler , S , Gargano , M , Matentzoglu , N , Carmody , L C , Lewis-Smith , D , Vasilevsky , N A , Danis , D , Balagura , G , Baynam , G , Brower , A M , Callahan , T J , Chute , C G , Est , J L , Galer , P D , Ganesan , S , Griese , M , Haimel , M , Pazmandi , J , Hanauer , M , Harris , N L , Hartnett , M J , Hastreiter , M , Hauck , F , He , Y , Jeske , T , Kearney , H , Kindle , G , Klein , C , Knoflach , K , Krause , R , Lagorce , D , McMurry , J A , Miller , J A , Munoz-Torres , M C , Peters , R L , Rapp , C K , Rath , A M , Rind , S A , Rosenberg , A Z , Segal , M M , Seidel , M G , Smedley , D , Talmy , T , Thomas , Y , Wiafe , S A , Xian , J , Y\u00fcksel , Z , Helbig , I , Mungall , C J , Haendel , M A &amp; Robinson , P N 2021 , ' The human phenotype ontology in 2021 ' , Nucleic Acids Research , vol. 49 , no. D1 , pp. D1207-D1217 . https://doi.org/10.1093/nar/gkaa1043","raw_type":"article"},{"id":"pmh:oai:qmro.qmul.ac.uk:123456789/18234","is_oa":true,"landing_page_url":"http://qmro.qmul.ac.uk/xmlui/handle/123456789/18234","pdf_url":null,"source":{"id":"https://openalex.org/S4306400530","display_name":"Queen Mary Research Online (Queen Mary University of London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I166337079","host_organization_name":"Queen Mary University of London","host_organization_lineage":["https://openalex.org/I166337079"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/21174","is_oa":true,"landing_page_url":"https://hdl.handle.net/1805/21174","pdf_url":null,"source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:scholarworks.iupui.edu:1805/21174","is_oa":true,"landing_page_url":"http://hdl.handle.net/1805/21174","pdf_url":null,"source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:unsworks.library.unsw.edu.au:1959.4/unsworks_53795","is_oa":true,"landing_page_url":"http://hdl.handle.net/1959.4/unsworks_53795","pdf_url":null,"source":{"id":"https://openalex.org/S4306401737","display_name":"UNSWorks (University of New South Wales, Sydney, Australia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40053085","host_organization_name":"Australian Defence Force Academy","host_organization_lineage":["https://openalex.org/I40053085"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 45, D1, D865-D876","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/169849","is_oa":true,"landing_page_url":"http://hdl.handle.net/2066/169849","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 45, D865 - d876","raw_type":"info:eu-repo/semantics/article"},{"id":"doi:10.25504/fairsharing.kbtt7f","is_oa":true,"landing_page_url":"https://doi.org/10.25504/fairsharing.kbtt7f","pdf_url":null,"source":{"id":"https://openalex.org/S7407053452","display_name":"FAIRsharing.org","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"dataset"}],"best_oa_location":{"id":"doi:10.1093/nar/gkw1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkw1039","pdf_url":"https://academic.oup.com/nar/article-pdf/45/D1/D865/8846656/gkw1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G1286236842","display_name":null,"funder_award_id":"-AC02-05CH11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G1286251239","display_name":null,"funder_award_id":"DE-AC02","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G1331116799","display_name":null,"funder_award_id":"305608","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G1794453450","display_name":null,"funder_award_id":"Energy","funder_id":"https://openalex.org/F4320320301","funder_display_name":"European Science Foundation"},{"id":"https://openalex.org/G1838817309","display_name":null,"funder_award_id":"R24OD011883","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G190484360","display_name":null,"funder_award_id":"DE-AC02-05CH1123","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G2376015631","display_name":null,"funder_award_id":"#5R24OD011883","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2659294540","display_name":null,"funder_award_id":"305444","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G2720550028","display_name":null,"funder_award_id":"E-AC02-05CH11231","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G2776628454","display_name":null,"funder_award_id":"AC02-05CH11231","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G2973790809","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3083819904","display_name":null,"funder_award_id":"05CH11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G3090734178","display_name":null,"funder_award_id":"R24-OD011883","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G3280709953","display_name":null,"funder_award_id":"2012-305121","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G3378117337","display_name":null,"funder_award_id":"unknown","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G3497591915","display_name":null,"funder_award_id":"(NIH)","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3514550006","display_name":null,"funder_award_id":"Centre","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G352791218","display_name":null,"funder_award_id":"(BMBF)","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G3685081974","display_name":null,"funder_award_id":"DE-AC02-05CH11231","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G3829048491","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G3981126665","display_name":null,"funder_award_id":"Seventh Framework Programme","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G4121577249","display_name":null,"funder_award_id":"5R24OD011883","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4140885311","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G425189044","display_name":null,"funder_award_id":"DE-AC02-05CH","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G4453053881","display_name":null,"funder_award_id":"HE5415/6-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G4501827968","display_name":null,"funder_award_id":"AC02-05CH11231","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G4565140552","display_name":null,"funder_award_id":"-AC02-05CH11231","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G4699350723","display_name":null,"funder_award_id":"DE-AC02-05CH1123","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4841871747","display_name":null,"funder_award_id":"DE_AC02-05CH11231","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G4869689085","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G4980587219","display_name":null,"funder_award_id":"HE5415/3-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G498139845","display_name":null,"funder_award_id":"DE-AC02","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G5123489780","display_name":null,"funder_award_id":"DE-AC02-05CH11231","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G526230902","display_name":null,"funder_award_id":"DE-AC02-05CH11231","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5315912995","display_name":null,"funder_award_id":"11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G5439719329","display_name":null,"funder_award_id":"DE-AC02-05CH11231]","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G5593277320","display_name":null,"funder_award_id":"2007-2013","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5702163051","display_name":null,"funder_award_id":"FP7/2007","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5802748842","display_name":null,"funder_award_id":"DE-AC02-05CH112","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G5899916485","display_name":null,"funder_award_id":"NIH OD #5R24OD011883","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6206495761","display_name":null,"funder_award_id":"2012-305608","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6330738325","display_name":null,"funder_award_id":"DE_AC02_05CH11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G6345853531","display_name":null,"funder_award_id":"unknown","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6348972864","display_name":null,"funder_award_id":"AC02-05CH11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G6429026066","display_name":null,"funder_award_id":"DE-AC02-05CH112","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G6558272803","display_name":null,"funder_award_id":"DE-AC02","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G6743243744","display_name":null,"funder_award_id":"unknown","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G7256713389","display_name":null,"funder_award_id":"HE5415/3-1","funder_id":"https://openalex.org/F4320320301","funder_display_name":"European Science Foundation"},{"id":"https://openalex.org/G7340683655","display_name":null,"funder_award_id":"E-AC02-05CH11231","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G7406122311","display_name":null,"funder_award_id":"AC02-05CH1123","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G7538560101","display_name":null,"funder_award_id":"DE-AC02-05CH11231","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7664691372","display_name":null,"funder_award_id":"DE-AC02-05CH1123","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G7825954517","display_name":null,"funder_award_id":"DE-AC02-05CH1123","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G7885640646","display_name":null,"funder_award_id":"OD #5R24OD011883","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8281549282","display_name":null,"funder_award_id":"HE5415/5-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8320450649","display_name":null,"funder_award_id":"0313911","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G8330397625","display_name":null,"funder_award_id":"Funding","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G833328826","display_name":null,"funder_award_id":"305121","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G8347226896","display_name":"Identifikation neuer Behandlungsans\u00e4tze f\u00fcr Epilepsien durch genetische Studien in der marokkanischen Bev\u00f6lkerung: ein Pilotprojekt","funder_award_id":"01DH12033","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G8377015798","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G8414908677","display_name":null,"funder_award_id":"DE-AC0","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"},{"id":"https://openalex.org/G8431251193","display_name":null,"funder_award_id":"-AC02-05CH11231","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G8526424774","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8675020064","display_name":null,"funder_award_id":"DE-AC02_05CH11231","funder_id":"https://openalex.org/F4320337480","funder_display_name":"Basic Energy Sciences"},{"id":"https://openalex.org/G8797594697","display_name":null,"funder_award_id":"10/01","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8871692183","display_name":null,"funder_award_id":"Programme","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G897164627","display_name":null,"funder_award_id":"DE-AC02_05CH11231","funder_id":"https://openalex.org/F4320332359","funder_display_name":"Office of Science"},{"id":"https://openalex.org/G969889393","display_name":null,"funder_award_id":"DE-AC02-","funder_id":"https://openalex.org/F4320306084","funder_display_name":"U.S. Department of Energy"}],"funders":[{"id":"https://openalex.org/F4320306084","display_name":"U.S. Department of Energy","ror":"https://ror.org/01bj3aw27"},{"id":"https://openalex.org/F4320314202","display_name":"Cold Spring Harbor Laboratory","ror":"https://ror.org/02qz8b764"},{"id":"https://openalex.org/F4320315071","display_name":"NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320317617","display_name":"E-Rare","ror":null},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320320301","display_name":"European Science Foundation","ror":"https://ror.org/04esata81"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320327683","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03tb37539"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332359","display_name":"Office of Science","ror":"https://ror.org/00mmn6b08"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"},{"id":"https://openalex.org/F4320337480","display_name":"Basic Energy Sciences","ror":"https://ror.org/05mg91w61"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2557385283.pdf","grobid_xml":"https://content.openalex.org/works/W2557385283.grobid-xml"},"referenced_works_count":102,"referenced_works":["https://openalex.org/W954754213","https://openalex.org/W1495905662","https://openalex.org/W1505770165","https://openalex.org/W1545144560","https://openalex.org/W1617386893","https://openalex.org/W1620419303","https://openalex.org/W1644197353","https://openalex.org/W1701211704","https://openalex.org/W1925852226","https://openalex.org/W1929075796","https://openalex.org/W1931908328","https://openalex.org/W1964255443","https://openalex.org/W1965364342","https://openalex.org/W1971192989","https://openalex.org/W1979594866","https://openalex.org/W1980171391","https://openalex.org/W1981911718","https://openalex.org/W1989026211","https://openalex.org/W1996383859","https://openalex.org/W1999204296","https://openalex.org/W2012361142","https://openalex.org/W2019971954","https://openalex.org/W2025349319","https://openalex.org/W2031925571","https://openalex.org/W2034736588","https://openalex.org/W2040712196","https://openalex.org/W2048024098","https://openalex.org/W2048612925","https://openalex.org/W2051075975","https://openalex.org/W2053643033","https://openalex.org/W2055032549","https://openalex.org/W2059313072","https://openalex.org/W2065434605","https://openalex.org/W2065853059","https://openalex.org/W2066351138","https://openalex.org/W2069010410","https://openalex.org/W2069303969","https://openalex.org/W2070809717","https://openalex.org/W2078889486","https://openalex.org/W2080770151","https://openalex.org/W2084168100","https://openalex.org/W2089903000","https://openalex.org/W2090146405","https://openalex.org/W2096019836","https://openalex.org/W2100407705","https://openalex.org/W2102856132","https://openalex.org/W2104008606","https://openalex.org/W2110586068","https://openalex.org/W2113072832","https://openalex.org/W2115350162","https://openalex.org/W2119613819","https://openalex.org/W2124213309","https://openalex.org/W2124649657","https://openalex.org/W2126249571","https://openalex.org/W2127006085","https://openalex.org/W2129867386","https://openalex.org/W2130011177","https://openalex.org/W2130222341","https://openalex.org/W2130948051","https://openalex.org/W2132254835","https://openalex.org/W2132832137","https://openalex.org/W2136410628","https://openalex.org/W2146495783","https://openalex.org/W2148499186","https://openalex.org/W2150417477","https://openalex.org/W2152565567","https://openalex.org/W2153032620","https://openalex.org/W2153845956","https://openalex.org/W2154866190","https://openalex.org/W2156713594","https://openalex.org/W2157079123","https://openalex.org/W2157217189","https://openalex.org/W2157970897","https://openalex.org/W2159583324","https://openalex.org/W2161360183","https://openalex.org/W2162151166","https://openalex.org/W2170282111","https://openalex.org/W2183091920","https://openalex.org/W2212671485","https://openalex.org/W2246559112","https://openalex.org/W2260396455","https://openalex.org/W2269037521","https://openalex.org/W2272951769","https://openalex.org/W2274048411","https://openalex.org/W2277462866","https://openalex.org/W2279010923","https://openalex.org/W2290262197","https://openalex.org/W2292081989","https://openalex.org/W2308508378","https://openalex.org/W2317915857","https://openalex.org/W2318368071","https://openalex.org/W2319718943","https://openalex.org/W2340315792","https://openalex.org/W2411262396","https://openalex.org/W2470146711","https://openalex.org/W2500109981","https://openalex.org/W2508904198","https://openalex.org/W2510298658","https://openalex.org/W2557385283","https://openalex.org/W2617677483","https://openalex.org/W4234674830","https://openalex.org/W4248995982"],"related_works":["https://openalex.org/W2350593162","https://openalex.org/W2390350206","https://openalex.org/W1969477129","https://openalex.org/W2921208823","https://openalex.org/W2131808775","https://openalex.org/W2353483812","https://openalex.org/W2360756181","https://openalex.org/W4323777127","https://openalex.org/W2342779107","https://openalex.org/W2202497494"],"abstract_inverted_index":{"Deep":[0],"phenotyping":[1,58],"has":[2],"been":[3],"defined":[4],"as":[5,62,64,78,88,143],"the":[6,16,20,30,38,44,121,124,128,162,172],"precise":[7],"and":[8,24,43,59,98,102,154,171],"comprehensive":[9],"analysis":[10],"of":[11,19,29,66,123,140,157,174],"phenotypic":[12,82],"abnormalities":[13,83],"in":[14,135],"which":[15],"individual":[17],"components":[18,28,51],"phenotype":[21,39,150],"are":[22,37,52],"observed":[23],"described.":[25],"The":[26,72],"three":[27],"Human":[31],"Phenotype":[32,164],"Ontology":[33],"(HPO;":[34],"www.human-phenotype-ontology.org)":[35],"project":[36,126],"vocabulary,":[40],"disease-phenotype":[41],"annotations":[42],"algorithms":[45,148],"that":[46],"operate":[47],"on":[48],"these.":[49],"These":[50],"being":[53,75],"used":[54],"for":[55,81,113,149],"computational":[56],"deep":[57],"precision":[60],"medicine":[61],"well":[63],"integration":[65,156],"clinical":[67,94,99],"data":[68,111],"into":[69],"translational":[70],"research.":[71],"HPO":[73,125],"is":[74],"increasingly":[76],"adopted":[77],"a":[79],"standard":[80],"by":[84],"diverse":[85],"groups":[86],"such":[87,142],"international":[89],"rare":[90],"disease":[91,115],"organizations,":[92],"registries,":[93],"labs,":[95],"biomedical":[96],"resources,":[97],"software":[100],"tools":[101],"will":[103],"thereby":[104],"contribute":[105],"toward":[106],"nascent":[107],"efforts":[108,160],"at":[109],"global":[110],"exchange":[112],"identifying":[114],"etiologies.":[116],"This":[117],"update":[118],"article":[119,134],"reviews":[120],"progress":[122],"since":[127],"debut":[129],"Nucleic":[130],"Acids":[131],"Research":[132],"database":[133],"2014,":[136],"including":[137],"specific":[138],"areas":[139],"expansion":[141],"common":[144],"(complex)":[145],"disease,":[146],"new":[147],"driven":[151],"genomic":[152],"discovery":[153],"diagnostics,":[155],"cross-species":[158],"mapping":[159],"with":[161],"Mammalian":[163],"Ontology,":[165],"an":[166],"improved":[167],"quality":[168],"control":[169],"pipeline,":[170],"addition":[173],"patient-friendly":[175],"terminology.":[176]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":33},{"year":2024,"cited_by_count":53},{"year":2023,"cited_by_count":36},{"year":2022,"cited_by_count":73},{"year":2021,"cited_by_count":85},{"year":2020,"cited_by_count":112},{"year":2019,"cited_by_count":128},{"year":2018,"cited_by_count":180},{"year":2017,"cited_by_count":88},{"year":2016,"cited_by_count":1}],"updated_date":"2026-04-18T07:56:08.524223","created_date":"2016-12-08T00:00:00"}
