Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples-Reference-Cited by-同舟云学术

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

Published:2017-02 Issue:2 Volume:19 Page:192-203
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201690.pdf

Reference40 articles.

1. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56–65.

2. Exome Aggregation Consortium; Lek M, Karczewski K, Minikel E, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature, e-pub ahead of print 17 August, 2016. http://biorxiv.org/content/early/2015/10/30/030338.

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