RT Journal
A1 Akey, Joshua M.
A1 Zhang, Ge
A1 Zhang, Kun
A1 Jin, Li
A1 Shriver, Mark D.
T1 Interrogating a High-Density SNP Map for Signatures of Natural Selection
JF Genome Research 
JO Genome Research 
YR 2002 
FD December 01 
VO 12 
IS 12 
SP 1805 
OP 1814 
DO 10.1101/gr.631202 
UL http://genome.cshlp.org/content/12/12/1805.abstract 
AB 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.[Supplemental material is available online atwww.genome.org.]