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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genet Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2017
विषय:
Original Research Article
ऑनलाइन पहुंच: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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