Haplotype Variation and Linkage Disequilibrium in 313 Human Genes
Stephens J, Schneider J, Tanguay D, Choi J, Acharya T, Stanley S, Jiang R, Messer C, Chew A, Han J, Duan J, Carr J, Lee M, Koshy B, Kumar A, Zhang G, Newell W, Windemuth A, Xu C, Kalbfleisch T, Shaner S, Arnold K, Schulz V, Drysdale C, Nandabalan K, Judson R, Ruaño G, Vovis G. Haplotype Variation and Linkage Disequilibrium in 313 Human Genes. Science 2001, 293: 489-493. PMID: 11452081, DOI: 10.1126/science.1059431.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPairs of SNPsLinkage disequilibriumVariable single nucleotide polymorphismsPatterns of variationIndividual single nucleotide polymorphismsHaplotype variationBiological traitsHuman genesDiverse ancestryDifferent haplotypesGenesNucleotide polymorphismsHuman populationUnrelated individualsHaplotypesRecent expansionPopulation frequencyDisequilibriumTraitsAncestryImportant implicationsInformation contentPolymorphismPopulation