Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

PURPOSE: The accurate interpretation of variation in Mendelian disease genes has lagged behind data generation as sequencing has become increasingly accessible. Ongoing large sequencing efforts present huge interpretive challenges, but they also provide an invaluable opportunity to characterize the...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5116235/
https://ncbi.nlm.nih.gov/pubmed/27532257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.90
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