Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference s...
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
About this item
Full title
Author / Creator
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. and Watkins, Hugh
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
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Scope and Contents
Contents
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.
We analyzed s...
Alternative Titles
Full title
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5116235
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5116235
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.90
