Article
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017
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
Abstract excerpt
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 spectrum and importance of rare variation. METHODS: We analyzed sequence data from 7,855 clinical cardiomyopathy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.