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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

dc.contributor.authorJacobsen, JOBen_US
dc.contributor.authorKelly, Cen_US
dc.contributor.authorCipriani, Ven_US
dc.contributor.authorRobinson, PNen_US
dc.contributor.authorSmedley, Den_US
dc.date.accessioned2023-03-07T10:32:57Z
dc.date.available2022-04-25en_US
dc.date.issued2022en_US
dc.identifier.issn1467-5463en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/84820
dc.relation.ispartofBRIEFINGS IN BIOINFORMATICSen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectphenotypeen_US
dc.subjectrare diseaseen_US
dc.subjectvariant prioritizationen_US
dc.titleEvaluation of phenotype-driven gene prioritization methods for Mendelian diseasesen_US
dc.typeArticle
dc.identifier.doi10.1093/bib/bbac188en_US
pubs.author-urlhttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000798060600001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue5en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume23en_US
qmul.funderIncreasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser::Eunice Kennedy Shriver National Institute of Child Health and Human Developmenten_US
qmul.funderIncreasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser::Eunice Kennedy Shriver National Institute of Child Health and Human Developmenten_US


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Attribution 3.0 United States
Except where otherwise noted, this item's license is described as Attribution 3.0 United States