{"id":"https://openalex.org/W2546737004","doi":"https://doi.org/10.1093/bioinformatics/btx147","title":"Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data","display_name":"Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data","publication_year":2017,"publication_date":"2017-03-14","ids":{"openalex":"https://openalex.org/W2546737004","doi":"https://doi.org/10.1093/bioinformatics/btx147","mag":"2546737004","pmid":"https://pubmed.ncbi.nlm.nih.gov/28334266"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btx147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx147","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/15/2421/25157737/btx147.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/33/15/2421/25157737/btx147.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083903120","display_name":"Nikolas Pontikos","orcid":"https://orcid.org/0000-0003-1782-4711"},"institutions":[{"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"]},{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Nikolas Pontikos","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK","Moorfields Eye Hospital, London, UK","UCL Genetics Institute, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Moorfields Eye Hospital, London, UK","institution_ids":["https://openalex.org/I45129253","https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Genetics Institute, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"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/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jing Yu","raw_affiliation_strings":["Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"affiliations":[{"raw_affiliation_string":"Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042102084","display_name":"Ismail Moghul","orcid":"https://orcid.org/0000-0003-3653-2327"},"institutions":[{"id":"https://openalex.org/I4210147892","display_name":"CRUK Lung Cancer Centre of Excellence","ror":"https://ror.org/04nm2mq63","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210147892"]},{"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"],"is_corresponding":false,"raw_author_name":"Ismail Moghul","raw_affiliation_strings":["UCL Cancer Institute, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"UCL Cancer Institute, University College London, London, UK","institution_ids":["https://openalex.org/I4210147892","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000010030","display_name":"Lucy Withington","orcid":null},"institutions":[{"id":"https://openalex.org/I4210132037","display_name":"RP Fighting Blindness","ror":"https://ror.org/02nkqdh98","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I4210132037"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lucy Withington","raw_affiliation_strings":["RP Fighting Blindness, PO Box 350, Buckingham, UK"],"affiliations":[{"raw_affiliation_string":"RP Fighting Blindness, PO Box 350, Buckingham, UK","institution_ids":["https://openalex.org/I4210132037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002414674","display_name":"Fiona Blanco\u2010Kelly","orcid":"https://orcid.org/0000-0003-0052-5651"},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"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"],"is_corresponding":false,"raw_author_name":"Fiona Blanco-Kelly","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK","Moorfields Eye Hospital, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Moorfields Eye Hospital, London, UK","institution_ids":["https://openalex.org/I45129253","https://openalex.org/I4210150574"]}]},{"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":["Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK"],"affiliations":[{"raw_affiliation_string":"Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010050656","display_name":"Tsz Lun Ernest Wong","orcid":"https://orcid.org/0000-0002-2454-987X"},"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":"Tsz Lun Ernest Wong","raw_affiliation_strings":["Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK"],"affiliations":[{"raw_affiliation_string":"Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048715246","display_name":"Cian Murphy","orcid":"https://orcid.org/0000-0003-1356-959X"},"institutions":[{"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"]},{"id":"https://openalex.org/I39555362","display_name":"University of Warwick","ror":"https://ror.org/01a77tt86","country_code":"GB","type":"education","lineage":["https://openalex.org/I39555362"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Cian Murphy","raw_affiliation_strings":["UCL Genetics Institute, University College London, London, UK","Warwick Medical School, The University of Warwick, Coventry, UK"],"affiliations":[{"raw_affiliation_string":"UCL Genetics Institute, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Warwick Medical School, The University of Warwick, Coventry, UK","institution_ids":["https://openalex.org/I39555362"]}]},{"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/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"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"],"is_corresponding":false,"raw_author_name":"Valentina Cipriani","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK","Moorfields Eye Hospital, London, UK","UCL Genetics Institute, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Moorfields Eye Hospital, London, UK","institution_ids":["https://openalex.org/I45129253","https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Genetics Institute, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068507148","display_name":"Alessia Fiorentino","orcid":"https://orcid.org/0000-0002-1403-4581"},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"Alessia Fiorentino","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078058754","display_name":"Gavin Arno","orcid":"https://orcid.org/0000-0002-6165-7888"},"institutions":[{"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"]},{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gavin Arno","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK","Moorfields Eye Hospital, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Moorfields Eye Hospital, London, UK","institution_ids":["https://openalex.org/I45129253","https://openalex.org/I4210150574"]}]},{"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/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":"funder","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, Cambridge Biomedical Campus, Cambridge, UK","Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK"],"affiliations":[{"raw_affiliation_string":"Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK","institution_ids":["https://openalex.org/I4210134973","https://openalex.org/I90344618"]}]},{"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/I4210149920","display_name":"William Harvey Research Institute","ror":"https://ror.org/0574dzy90","country_code":"GB","type":"facility","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4210149920"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julius OB Jacobsen","raw_affiliation_strings":["Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London, UK"],"affiliations":[{"raw_affiliation_string":"Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London, UK","institution_ids":["https://openalex.org/I4210149920","https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010787548","display_name":"Tristan Clark","orcid":"https://orcid.org/0000-0001-6026-5295"},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"Tristan Clark","raw_affiliation_strings":["Computer Science Department, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Computer Science Department, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011449139","display_name":"David S Gregory","orcid":null},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"David S Gregory","raw_affiliation_strings":["Computer Science Department, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Computer Science Department, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038173781","display_name":"Andrea M Nemeth","orcid":null},"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":"Andrea M Nemeth","raw_affiliation_strings":["Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"affiliations":[{"raw_affiliation_string":"Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068068271","display_name":"Stephanie Halford","orcid":"https://orcid.org/0000-0003-2179-907X"},"institutions":[{"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"]},{"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Stephanie Halford","raw_affiliation_strings":["Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"affiliations":[{"raw_affiliation_string":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052612226","display_name":"Chris F. Inglehearn","orcid":"https://orcid.org/0000-0002-5143-2562"},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]},{"id":"https://openalex.org/I130828816","display_name":"University of Leeds","ror":"https://ror.org/024mrxd33","country_code":"GB","type":"education","lineage":["https://openalex.org/I130828816"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Chris F Inglehearn","raw_affiliation_strings":["Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James\u2019s University Hospital, Leeds, UK","Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James's University Hospital, Leeds, UK"],"affiliations":[{"raw_affiliation_string":"Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James\u2019s University Hospital, Leeds, UK","institution_ids":["https://openalex.org/I2801331674","https://openalex.org/I130828816"]},{"raw_affiliation_string":"Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James's University Hospital, Leeds, UK","institution_ids":["https://openalex.org/I2801331674","https://openalex.org/I130828816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082031977","display_name":"Susan M. Downes","orcid":"https://orcid.org/0000-0001-7373-2665"},"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Susan Downes","raw_affiliation_strings":["Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK"],"affiliations":[{"raw_affiliation_string":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033873486","display_name":"Graeme C. Black","orcid":"https://orcid.org/0000-0001-8727-6592"},"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Graeme C Black","raw_affiliation_strings":["Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK"],"affiliations":[{"raw_affiliation_string":"Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK","institution_ids":["https://openalex.org/I2801704036"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090291315","display_name":"Andrew R. Webster","orcid":"https://orcid.org/0000-0001-6915-9560"},"institutions":[{"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"]},{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew R Webster","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK","Moorfields Eye Hospital, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Moorfields Eye Hospital, London, UK","institution_ids":["https://openalex.org/I45129253","https://openalex.org/I4210150574"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068050684","display_name":"Alison J. Hardcastle","orcid":"https://orcid.org/0000-0002-0038-6770"},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"Alison J Hardcastle","raw_affiliation_strings":["Institute of Ophthalmology, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Institute of Ophthalmology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068852782","display_name":"Vincent Plagnol","orcid":"https://orcid.org/0000-0002-5597-9215"},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"UKIRDC","raw_affiliation_strings":["UCL Genetics Institute, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"UCL Genetics Institute, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":null,"display_name":"Vincent Plagnol","orcid":null},"institutions":[{"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"],"is_corresponding":false,"raw_author_name":"Vincent Plagnol","raw_affiliation_strings":["UCL Genetics Institute, University College London, London, UK"],"affiliations":[{"raw_affiliation_string":"UCL Genetics Institute, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":24,"corresponding_author_ids":["https://openalex.org/A5083903120"],"corresponding_institution_ids":["https://openalex.org/I4210150574","https://openalex.org/I45129253"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":5.6745,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.95854716,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"33","issue":"15","first_page":"2421","last_page":"2423"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.9884999990463257,"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"}},"topics":[{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.9884999990463257,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9721999764442444,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9635999798774719,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/harmonization","display_name":"Harmonization","score":0.7634721994400024},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.6315019726753235},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5482956171035767},{"id":"https://openalex.org/keywords/open-source","display_name":"Open source","score":0.4252014756202698},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.41499167680740356},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4131203293800354},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.33680975437164307},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2635499835014343},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.23244422674179077},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.10111898183822632},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.07110726833343506}],"concepts":[{"id":"https://openalex.org/C2779962950","wikidata":"https://www.wikidata.org/wiki/Q5659376","display_name":"Harmonization","level":2,"score":0.7634721994400024},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6315019726753235},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5482956171035767},{"id":"https://openalex.org/C3018397939","wikidata":"https://www.wikidata.org/wiki/Q3644502","display_name":"Open source","level":3,"score":0.4252014756202698},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.41499167680740356},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4131203293800354},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.33680975437164307},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2635499835014343},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23244422674179077},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.10111898183822632},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07110726833343506},{"id":"https://openalex.org/C24890656","wikidata":"https://www.wikidata.org/wiki/Q82811","display_name":"Acoustics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"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":"D012984","descriptor_name":"Software","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":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","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":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","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":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btx147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx147","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/15/2421/25157737/btx147.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:28334266","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28334266","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/4a4c07b1-2e81-4ab4-8a0b-65d163b7314c","is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/4a4c07b1-2e81-4ab4-8a0b-65d163b7314c","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"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":"Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, T L E, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, J O B, Clark, T, Gregory, D S, Nemeth, A M, Halford, S, Inglehearn, C F, Downes, S, Black, G C, Webster, A R, Hardcastle, A J, Plagnol, V, Ali, M, McKibbin, M, Poulter, J A, Khan, K, Lord, E, Lise, S, Michaelides, M, Cheetham, M E, Van Heyningen, V & UKIRDC 2017, 'Phenopolis : An open platform for harmonization and analysis of genetic and phenotypic data', Bioinformatics, vol. 33, no. 15, pp. 2421-2423. https://doi.org/10.1093/bioinformatics/btx147","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:publications/4a4c07b1-2e81-4ab4-8a0b-65d163b7314c","is_oa":true,"landing_page_url":"http://www.scopus.com/inward/record.url?scp=85026411751&partnerID=8YFLogxK","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"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":"Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, T L E, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, J O B, Clark, T, Gregory, D S, Nemeth, A M, Halford, S, Inglehearn, C F, Downes, S, Black, G C, Webster, A R, Hardcastle, A J, Plagnol, V, Ali, M, McKibbin, M, Poulter, J A, Khan, K, Lord, E, Lise, S, Michaelides, M, Cheetham, M E, Van Heyningen, V & UKIRDC 2017, 'Phenopolis : An open platform for harmonization and analysis of genetic and phenotypic data', Bioinformatics, vol. 33, no. 15, pp. 2421-2423. https://doi.org/10.1093/bioinformatics/btx147","raw_type":"article"},{"id":"pmh:oai:qmro.qmul.ac.uk:123456789/62706","is_oa":false,"landing_page_url":"https://qmro.qmul.ac.uk/xmlui/handle/123456789/62706","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btx147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx147","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/15/2421/25157737/btx147.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals","score":0.4000000059604645}],"awards":[{"id":"https://openalex.org/G100281082","display_name":null,"funder_award_id":"1759459","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"}],"funders":[{"id":"https://openalex.org/F4320334629","display_name":"Biotechnology and Biological Sciences Research Council","ror":"https://ror.org/00cwqg982"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2546737004.pdf","grobid_xml":"https://content.openalex.org/works/W2546737004.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1744232840","https://openalex.org/W2014456608","https://openalex.org/W2080770151","https://openalex.org/W2113534011","https://openalex.org/W2119180969","https://openalex.org/W2119412782","https://openalex.org/W2127006085","https://openalex.org/W2170282111","https://openalex.org/W2256016639","https://openalex.org/W2279010923","https://openalex.org/W2417483443","https://openalex.org/W2952222590","https://openalex.org/W6677735700"],"related_works":["https://openalex.org/W2006073222","https://openalex.org/W2488916264","https://openalex.org/W2323573032","https://openalex.org/W198625436","https://openalex.org/W1908077024","https://openalex.org/W2095388346","https://openalex.org/W2379751185","https://openalex.org/W2379404183","https://openalex.org/W2004509987","https://openalex.org/W2185986540"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":4}],"updated_date":"2025-11-23T05:10:03.516525","created_date":"2025-10-10T00:00:00"}
