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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Veröffentlicht in:Genet Med
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
Schlagworte:
Original Research Article
Online Zugang: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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