Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Author:

Cassa Christopher A,Weghorn Donate,Balick Daniel J,Jordan Daniel M,Nusinow DavidORCID,Samocha Kaitlin E,O'Donnell-Luria Anne,MacArthur Daniel G,Daly Mark JORCID,Beier David R,Sunyaev Shamil R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference51 articles.

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3. Wang, T. et al. Identification and characterization of essential genes in the human genome. Science 350, 1096–1101 (2015).

4. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).

5. Williamson, S.H. et al. Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc. Natl. Acad. Sci. USA 102, 7882–7887 (2005).

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