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


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… (More)
DOI: 10.1038/ng.3831

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