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Article

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

Nature genetics - 1 May 2017

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

Abstract excerpt

The evolutionary cost of gene loss is a central question in genetics and has been investigated in model organisms and human cell lines. In humans, tolerance of the loss of one or both functional copies of a gene is related to the gene's causal role in disease. However, estimates of the selection and dominance coefficients in humans have been elusive. Here we analyze exome sequence data from 60,706 individuals to...

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Identifiers

PMID: 28369035
DOI: 10.1038/ng.3831
PMCID: PMC5618255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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