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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618255/
https://www.ncbi.nlm.nih.gov/pubmed/28369035
http://dx.doi.org/10.1038/ng.3831

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618255/
https://www.ncbi.nlm.nih.gov/pubmed/28369035
http://dx.doi.org/10.1038/ng.3831

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