articleScienceJun 1, 2023GREEN OA

The landscape of tolerated genetic variation in humans and primates

HGHong GaoTHTobias HampJMJeffrey M. EdeJGJoshua G. SchraiberJFJeremy F. McRae

Illumina (United States) · Broad Institute · +74 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole-genome sequencing data for 809 individuals from 233 primate species and identified 4.3 million common protein-altering variants with orthologs in humans. We show that these variants can be inferred to have nondeleterious effects in humans based on their presence at high allele frequencies in other primate populations. We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the…

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174
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100%
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Authors

97

Topics & keywords

Topics
Keywords
  • Biology
  • Genetic variation
  • Genome
  • Genetics
  • Primate
  • Human genome
  • Allele
  • Human genetic variation
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