{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:17:12Z","timestamp":1790234232512,"version":"4.1.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T00:00:00Z","timestamp":1556150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Koeln Fortune","award":["241\/2017"],"award-info":[{"award-number":["241\/2017"]}]},{"name":"Heinz und Heide D\u00fcrr Stiftung","award":["2017\/2.2.1\/03"],"award-info":[{"award-number":["2017\/2.2.1\/03"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We present a web-application, Variant Score Ranker, which enables users to rapidly annotate variants and perform gene-specific variant score ranking on the population level. We also provide an intuitive example of how gene- and population-calibrated variant ranking scores can improve epilepsy variant prioritization.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>http:\/\/vsranker.broadinstitute.org<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btz252","type":"journal-article","created":{"date-parts":[[2019,4,17]],"date-time":"2019-04-17T12:51:47Z","timestamp":1555505507000},"page":"4478-4479","source":"Crossref","is-referenced-by-count":6,"title":["Variant Score Ranker\u2014a web application for intuitive missense variant prioritization"],"prefix":"10.1093","volume":"35","author":[{"given":"Juanjiangmeng","family":"Du","sequence":"first","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Sudarsanam","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"},{"name":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"P\u00e9rez-Palma","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ganna","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Francioli","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumaiya","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa-Marie","family":"Niestroj","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costin","family":"Leu","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA"},{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Institute of Neurology, University College London , London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Weisburd","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Poterba","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), University of Cologne , Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J","family":"Daly","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarno","family":"Palotie","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Institute for Molecular Medicine Finland (FIMM), University of Helsinki , Helsinki, Finland"},{"name":"Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Department of Neurology, Massachusetts General Hospital , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8698-3770","authenticated-orcid":false,"given":"Patrick","family":"May","sequence":"additional","affiliation":[{"name":"Luxembourg Centre for Systems Biomedicine, University Luxembourg , Esch-sur-Alzette 4365, Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Lal","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, University Hospital Cologne , Cologne, Germany"},{"name":"Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic , Cleveland, OH, USA"},{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, USA"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA, USA"},{"name":"Epilepsy Center, Neurological Institute, Cleveland Clinic , Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,4,25]]},"reference":[{"key":"2023062712544898800_btz252-B1","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1038\/nature04240","article-title":"Natural selection on protein-coding genes in the human 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