title: Whole-genome patterns of common DNA variation in three human populations.
abstract: Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.
authors.affiliation: Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Hinds
authors.forename: Laura L
authors.initials: LL
authors.lastname: Stuve
authors.forename: Geoffrey B
authors.initials: GB
authors.lastname: Nilsen
authors.forename: Eran
authors.initials: E
authors.lastname: Halperin
authors.forename: Eleazar
authors.initials: E
authors.lastname: Eskin
authors.forename: Dennis G
authors.initials: DG
authors.lastname: Ballinger
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
authors.forename: David R
authors.initials: DR
authors.lastname: Cox
mesh_terms: D001741:Black or African American / Q000235:genetics*; D000465:Algorithms; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping; D030541:Databases, Genetic; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020412:Multifactorial Inheritance; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D012307:Risk Factors; D012641:Selection, Genetic; D044465:White People / Q000235:genetics*
chemical_list: D005819:Genetic Markers