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Constraining models of dominance for nonsynonymous mutations in the human genome.

Christopher C KyriazisKirk E Lohmueller
Published in: bioRxiv : the preprint server for biology (2024)
. We then use a range of plausible selection and dominance models to explore how deleterious variation may have been shaped by the out-of-Africa bottleneck in humans. Our results highlight the subtle influence of dominance on patterns of genetic load in humans and demonstrate that models of partially recessive mutations at amino-acid-changing sites can explain the observed effects of inbreeding on mortality in humans.
Keyphrases
  • amino acid
  • endothelial cells
  • genome wide
  • type diabetes
  • risk factors
  • cardiovascular disease
  • coronary artery disease
  • induced pluripotent stem cells
  • dna methylation
  • pluripotent stem cells