Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
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DOI: 10.1101/2022.08.11.503594
Abstract: Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in “mutation intolerant” genes. We show how such observations can be interpreted in light of a model of mutation-selection balance, and use the… read more here.
Keywords: loss function; fitness effects; evolutionary fitness; fitness ... See more keywords