Interrogating a high-density SNP map for signitures of natural selection

Joshua M. Akey, Ge Zhang, Kun Zhang, Li Jin, Mark D. Shriver

Research output: Contribution to journalReview articlepeer-review

730 Scopus citations


Identifying genomic regions that have been targets of natural selection remains one of the most important and challenging areas of research in genetics. To this end, we report an analysis of 26,530 single nucleotide polymorphisms (SNPs) with allele frequencies that were determined in three populations. Specifically, we calculated a measure of genetic differentiation, FST, for each locus and examined its distribution at the level of the genome, the chromosome, and individual genes. Through a variety of analyses, we have found statistically significant evidence supporting the hypothesis that selection has influenced extant patterns of human genetic variation. Importantly, by contrasting the FST of individual SNPs to the empirical genome-wide distribution of FST, our results are not confounded by tenuous assumptions of population demographic history. Furthermore, we have identified 174 candidate genes with distribution of genetic variation that indicates that they have been targets of selection. Our work provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.

Original languageEnglish (US)
Pages (from-to)1805-1814
Number of pages10
JournalGenome Research
Issue number12
StatePublished - Dec 1 2002
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics


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