2005
The Pattern of Polymorphism in Arabidopsis thaliana
Nordborg M, Hu T, Ishino Y, Jhaveri J, Toomajian C, Zheng H, Bakker E, Calabrese P, Gladstone J, Goyal R, Jakobsson M, Kim S, Morozov Y, Padhukasahasram B, Plagnol V, Rosenberg N, Shah C, Wall J, Wang J, Zhao K, Kalbfleisch T, Schulz V, Kreitman M, Bergelson J. The Pattern of Polymorphism in Arabidopsis thaliana. PLOS Biology 2005, 3: e196. PMID: 15907155, PMCID: PMC1135296, DOI: 10.1371/journal.pbio.0030196.Peer-Reviewed Original ResearchConceptsPatterns of polymorphismA. thalianaArabidopsis thalianaEvolutionary functional genomicsLinkage disequilibrium decayGenome-wide excessLevel of polymorphismStandard neutral modelDisequilibrium decayFunctional genomicsGene densityNatural populationsSegmental duplicationsGenomic regionsNatural selectionPopulation structureThalianaPolymorphism dataNeutral modelTheoretical null distributionRare allelesShort fragmentsPolymorphismWide surveyGenomics
2001
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