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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Bibliografske podrobnosti
izdano v:Nat Genet
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.
Format: Artigo
Jezik:Inglês
Izdano: 2016
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5042837/
https://ncbi.nlm.nih.gov/pubmed/27533299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3638
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