Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.
作者信息
Freeman Peter J, Wagstaff John F, Fokkema Ivo F A C, Cutting Garry R, Rehm Heidi L, Davies Angela C, den Dunnen Johan T, Gretton Liam J, Dalgleish Raymond
机构信息
Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.
出版信息
Nat Genet. 2024 Nov;56(11):2284-2286. doi: 10.1038/s41588-024-01938-w.
PMID:39358598
Abstract
摘要
Zotero 插件