Reposted by John Witte
Excited to see @jonj-udd.bsky.social's fantastic work out @genetics-gsa.bsky.social.
Selection in _heterozygotes_ is the primary force shaping allele frequencies of loss-of-function mutations in humans, even in genes only associated with purely recessive diseases. 🧪🧬
doi.org/10.1093/gene...
doi.org
Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes
Abstract. The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model pred
