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

Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selection coefficients are enriched in Mendelian disease-associated genes and essential mouse genes, suggesting that this coefficient can be used to prioritize candidate disease-associated genes from clinical exome-sequencing data.