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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Detalles Bibliográficos
Publicado en:Genet Med
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
Materias:
Original Research Article
Acceso en línea: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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