Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Copy number variation (CNV) impacting protein-coding genes contributes significantly to human diversity and disease. Here we characterized the rates and properties of rare genic CNV (<0.5% frequency) in exome-sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC...

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Main Authors: Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
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Language:English
Published: 2016
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC5042837/
https://pubmed.ncbi.nlm.nih.gov/27533299
http://dx.doi.org/10.1038/ng.3638
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5042837/
https://pubmed.ncbi.nlm.nih.gov/27533299
http://dx.doi.org/10.1038/ng.3638

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