Article

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes

2025-12-09

Abstract excerpt

The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency of deleterious variants, mutation rate, and strength of selection, with different functions for recessive and (co-)dominant genes. In this study, we investigate whether genes associated with human recessive disorders...

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Literature Corpus work: 8da46393-de13-59b3-b2de-3984dfc57fdd
DOI: 10.64898/2025.12.05.692665

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