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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Nat Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller