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Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

The dispensability of individual genes for viability has interested generations of geneticists. For some genes it is essential to maintain two functional chromosomal copies, while others may tolerate the loss of one or both copies. Exome sequence data from 60,706 individuals provide sufficient obser...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5618255/
https://ncbi.nlm.nih.gov/pubmed/28369035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3831
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