{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T10:10:58Z","timestamp":1776075058038,"version":"3.50.1"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"W1","license":[{"start":{"date-parts":[[2021,4,24]],"date-time":"2021-04-24T00:00:00Z","timestamp":1619222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TP08"],"award-info":[{"award-number":["TP08"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TP09"],"award-info":[{"award-number":["TP09"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TP05"],"award-info":[{"award-number":["TP05"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TP09"],"award-info":[{"award-number":["TP09"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["390688087"],"award-info":[{"award-number":["390688087"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction model and attains higher accuracy than its predecessor, especially for rare benign variants. In addition, we have integrated many sources of data that only became available after the last release (such as gnomAD and ExAC pLI scores) and changed the splice site prediction model. To more easily assess the relevance of detected known disease mutations to the clinical phenotype of the patient, MutationTaster now provides information on the diseases they cause. Further changes represent a major overhaul of the interfaces to increase user-friendliness whilst many changes under the hood have been designed to accelerate the processing of uploaded VCF files. We also offer an API for the rapid automated query of smaller numbers of variants from within other software. MutationTaster2021 integrates our disease mutation search engine, MutationDistiller, to prioritise variants from VCF files using the patient's clinical phenotype. The novel version is available at https:\/\/www.genecascade.org\/MutationTaster2021\/. This website is free and open to all users and there is no login requirement.<\/jats:p>","DOI":"10.1093\/nar\/gkab266","type":"journal-article","created":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T19:11:44Z","timestamp":1617304304000},"page":"W446-W451","source":"Crossref","is-referenced-by-count":301,"title":["MutationTaster2021"],"prefix":"10.1093","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6613-4675","authenticated-orcid":false,"given":"Robin","family":"Steinhaus","sequence":"first","affiliation":[{"name":"Berliner Institut f\u00fcr Gesundheitsforschung in der Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"},{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 13353 Berlin, Germany"}]},{"given":"Sebastian","family":"Proft","sequence":"additional","affiliation":[{"name":"Berliner Institut f\u00fcr Gesundheitsforschung in der Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"},{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 13353 Berlin, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2824-3891","authenticated-orcid":false,"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr P\u00e4diatrie m.S. Neurologie, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 13353 Berlin, Germany"},{"name":"NeuroCure Clinical Research Center, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 10117 Berlin, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8943-8484","authenticated-orcid":false,"given":"David N","family":"Cooper","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XW, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7048-208X","authenticated-orcid":false,"given":"Jana\u00a0Marie","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr P\u00e4diatrie m.S. Neurologie, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 13353 Berlin, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9746-4412","authenticated-orcid":false,"given":"Dominik","family":"Seelow","sequence":"additional","affiliation":[{"name":"Berliner Institut f\u00fcr Gesundheitsforschung in der Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"},{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, 13353 Berlin, Germany"}]}],"member":"286","published-online":{"date-parts":[[2021,4,24]]},"reference":[{"key":"2021070812012231000_B1","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","article-title":"The Human Gene Mutation Database (HGMD\u00ae): optimizing its use in a clinical diagnostic or research setting","volume":"139","author":"Stenson","year":"2020","journal-title":"Hum. 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