title: Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.
abstract: Single nucleotide polymorphisms (SNPs) that lead to non-synonymous changes in proteins may have functional effects and be subject to selection. Hence they are of particular interest in the study of genetic diseases. We have genotyped approximately 28,000 such SNPs in three ethnic populations (the HapMap plates) and ten primate species and analyzed these data for evidence of selection. We find SNPs predicted by PolyPhen to be damaging, have lower allele frequencies, and are particularly likely to be population-specific. We have also grouped SNPs by molecular function or biological process of the associated genes and find evidence that selection may be acting in concert on classes of genes.
authors.affiliation: Affymetrix, ParAllele BioScience, 7300 Shoreline Blvd, South San Francisco, CA 94080, USA.
authors.forename: James
authors.initials: J
authors.lastname: Ireland
authors.forename: Victoria E H
authors.initials: VE
authors.lastname: Carlton
authors.forename: Matthew
authors.initials: M
authors.lastname: Falkowski
authors.forename: Martin
authors.initials: M
authors.lastname: Moorhead
authors.forename: Karen
authors.initials: K
authors.lastname: Tran
authors.forename: Francisco
authors.initials: F
authors.lastname: Useche
authors.forename: Paul
authors.initials: P
authors.lastname: Hardenbol
authors.forename: Ayca
authors.initials: A
authors.lastname: Erbilgin
authors.forename: Ron
authors.initials: R
authors.lastname: Fitzgerald
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Willis
authors.forename: Malek
authors.initials: M
authors.lastname: Faham
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D030541:Databases, Genetic; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011323:Primates / Q000235:genetics; D012641:Selection, Genetic; D044465:White People / Q000235:genetics*