{"id":"https://openalex.org/W2942443599","doi":"https://doi.org/10.1093/bioinformatics/btz252","title":"Variant Score Ranker\u2014a web application for intuitive missense variant prioritization","display_name":"Variant Score Ranker\u2014a web application for intuitive missense variant prioritization","publication_year":2019,"publication_date":"2019-04-17","ids":{"openalex":"https://openalex.org/W2942443599","doi":"https://doi.org/10.1093/bioinformatics/btz252","mag":"2942443599","pmid":"https://pubmed.ncbi.nlm.nih.gov/31086968"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btz252","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz252","pdf_url":null,"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":"green","oa_url":"https://academic.oup.com/bioinformatics/advance-article-abstract/doi/10.1093/bioinformatics/btz252/5480132?redirectedFrom=fulltext","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103878723","display_name":"Juanjiangmeng Du","orcid":null},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Juanjiangmeng Du","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076254998","display_name":"Monica Sudarsanam","orcid":null},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Monica Sudarsanam","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA","institution_ids":["https://openalex.org/I36373038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089854537","display_name":"Eduardo P\u00e9rez\u2010Palma","orcid":"https://orcid.org/0000-0003-0546-5141"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Eduardo P\u00e9rez-Palma","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073500794","display_name":"Andrea Ganna","orcid":"https://orcid.org/0000-0002-8147-240X"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","US"],"is_corresponding":false,"raw_author_name":"Andrea Ganna","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA","Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland","institution_ids":["https://openalex.org/I4210133586","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050209066","display_name":"Laurent C. Francioli","orcid":"https://orcid.org/0000-0002-3039-8895"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laurent Francioli","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016850814","display_name":"Sumaiya Iqbal","orcid":"https://orcid.org/0000-0001-7700-4374"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sumaiya Iqbal","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066703545","display_name":"Lisa\u2010Marie Niestroj","orcid":"https://orcid.org/0000-0002-6986-0549"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Lisa-Marie Niestroj","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050491303","display_name":"Costin Leu","orcid":"https://orcid.org/0000-0003-0598-3301"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]},{"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","US"],"is_corresponding":false,"raw_author_name":"Costin Leu","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, MA, USA","Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA","Institute of Neurology, University College London , London, UK"],"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA","institution_ids":["https://openalex.org/I36373038"]},{"raw_affiliation_string":"Institute of Neurology, University College London , London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062252445","display_name":"Ben Weisburd","orcid":"https://orcid.org/0000-0001-9898-9109"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ben Weisburd","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA","Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112441827","display_name":"Tim Poterba","orcid":null},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tim Poterba","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078248666","display_name":"Peter N\u00fcrnberg","orcid":"https://orcid.org/0000-0002-7228-428X"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter N\u00fcrnberg","raw_affiliation_strings":["Center for Molecular Medicine Cologne (CMMC), University of Cologne , Cologne, Germany","Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"],"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine Cologne (CMMC), University of Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]},{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107596541","display_name":"Mark J. Daly","orcid":"https://orcid.org/0000-0002-0949-8752"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","US"],"is_corresponding":false,"raw_author_name":"Mark J Daly","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA","Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland","institution_ids":["https://openalex.org/I4210133586","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085708490","display_name":"Aarno Palotie","orcid":"https://orcid.org/0000-0002-2527-5874"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","US"],"is_corresponding":false,"raw_author_name":"Aarno Palotie","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA","Department of Neurology, Massachusetts General Hospital , Boston, MA, USA","Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland","Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Neurology, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland","institution_ids":["https://openalex.org/I4210133586","https://openalex.org/I133731052"]},{"raw_affiliation_string":"Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057437092","display_name":"Patrick May","orcid":"https://orcid.org/0000-0001-8698-3770"},"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":"Patrick May","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, University Luxembourg , Esch-sur-Alzette 4365, Luxembourg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, University Luxembourg , Esch-sur-Alzette 4365, Luxembourg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010212767","display_name":"Dennis Lal","orcid":"https://orcid.org/0000-0002-5173-9636"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE","US"],"is_corresponding":true,"raw_author_name":"Dennis Lal","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","Broad Institute of MIT and Harvard , Cambridge, MA, USA","Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","Epilepsy Center, Neurological Institute, Cleveland Clinic , Cleveland, OH, USA","Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755","https://openalex.org/I180923762"]},{"raw_affiliation_string":"Epilepsy Center, Neurological Institute, Cleveland Clinic , Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA","institution_ids":["https://openalex.org/I36373038"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5010212767"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I1316902750","https://openalex.org/I180923762","https://openalex.org/I36373038","https://openalex.org/I4210087915","https://openalex.org/I4210153755"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":0.8966,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.77741714,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":97},"biblio":{"volume":"35","issue":"21","first_page":"4478","last_page":"4479"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998999834060669,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9998999834060669,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9962999820709229,"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":0.9872999787330627,"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/missense-mutation","display_name":"Missense mutation","score":0.6769607663154602},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.6285920143127441},{"id":"https://openalex.org/keywords/ranking","display_name":"Ranking (information retrieval)","score":0.6106793284416199},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5831514000892639},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5257095694541931},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.46519768238067627},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.4411923587322235},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4109538793563843},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.3488151729106903},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.30742567777633667},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2750553786754608},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.2061994969844818},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.1501636803150177},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.14583107829093933}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6769607663154602},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.6285920143127441},{"id":"https://openalex.org/C189430467","wikidata":"https://www.wikidata.org/wiki/Q7293293","display_name":"Ranking (information retrieval)","level":2,"score":0.6106793284416199},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5831514000892639},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5257095694541931},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.46519768238067627},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4411923587322235},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4109538793563843},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.3488151729106903},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30742567777633667},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2750553786754608},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.2061994969844818},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1501636803150177},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.14583107829093933},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0},{"id":"https://openalex.org/C539667460","wikidata":"https://www.wikidata.org/wiki/Q2414942","display_name":"Management science","level":1,"score":0.0}],"mesh":[{"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":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btz252","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz252","pdf_url":null,"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:31086968","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31086968","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:USBKOELN.ub.uni-koeln.de:12897","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306400371","display_name":"K\u00f6lner Universit\u00e4ts PublikationsServer (Universit\u00e4t zu K\u00f6ln)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210115942","host_organization_name":"Rhenish Institute for Environmental Research","host_organization_lineage":["https://openalex.org/I4210115942"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"doc-type:article"},{"id":"pmh:oai:orbilu.uni.lu:10993/39404","is_oa":true,"landing_page_url":"https://orbilu.uni.lu/handle/10993/39404","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-abstract/doi/10.1093/bioinformatics/btz252/5480132?redirectedFrom=fulltext","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics (2019-04-25)","raw_type":"peer reviewed"}],"best_oa_location":{"id":"pmh:oai:orbilu.uni.lu:10993/39404","is_oa":true,"landing_page_url":"https://orbilu.uni.lu/handle/10993/39404","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-abstract/doi/10.1093/bioinformatics/btz252/5480132?redirectedFrom=fulltext","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics (2019-04-25)","raw_type":"peer reviewed"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2942443599.pdf","grobid_xml":"https://content.openalex.org/works/W2942443599.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W1972673599","https://openalex.org/W2101412130","https://openalex.org/W2122732537","https://openalex.org/W2160995259","https://openalex.org/W2173732482","https://openalex.org/W2256016639","https://openalex.org/W2770026599"],"related_works":["https://openalex.org/W1892467659","https://openalex.org/W1529400504","https://openalex.org/W2171277769","https://openalex.org/W2118564381","https://openalex.org/W2009966535","https://openalex.org/W2088063203","https://openalex.org/W2357241418","https://openalex.org/W2019988726","https://openalex.org/W2082530227","https://openalex.org/W2998403542"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3}],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2025-10-10T00:00:00"}
