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dc.contributor.authorChambers, JC-
dc.contributor.authorAbbott, J-
dc.contributor.authorZhang, W-
dc.contributor.authorTurro, E-
dc.contributor.authorScott, WR-
dc.contributor.authorTan, ST-
dc.contributor.authorAfzal, U-
dc.contributor.authorAfaq, S-
dc.contributor.authorLoh, M-
dc.contributor.authorLehne, B-
dc.contributor.authorO'Reilly, P-
dc.contributor.authorGaulton, KJ-
dc.contributor.authorPearson, RD-
dc.contributor.authorLi, X-
dc.contributor.authorLavery, A-
dc.contributor.authorVandrovcova, J-
dc.contributor.authorWass, MN-
dc.contributor.authorMiller, K-
dc.contributor.authorSehmi, J-
dc.contributor.authorOozageer, L-
dc.contributor.authorKooner, IK-
dc.contributor.authorAl-Hussaini, A-
dc.contributor.authorMills, R-
dc.contributor.authorGrewal, J-
dc.contributor.authorPanoulas, V-
dc.contributor.authorLewin, AM-
dc.contributor.authorNorthwood, K-
dc.contributor.authorWander, GS-
dc.contributor.authorGeoghegan, F-
dc.contributor.authorLi, Y-
dc.contributor.authorWang, J-
dc.contributor.authorAitman, TJ-
dc.contributor.authorMcCarthy, MI-
dc.contributor.authorScott, J-
dc.contributor.authorButcher, S-
dc.contributor.authorElliott, P-
dc.contributor.authorElliott, P-
dc.contributor.authorElliott, P-
dc.contributor.authorKooner, JS-
dc.identifier.citationPLoS ONE, 9(8): e102645, (2014)en_US
dc.descriptionGenetics of disease Microarrays Variant genotypes Population genetics Sequence alignment Allelesen_US
dc.description.abstractThe genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world's population, is not well described. We carried out whole genome sequencing of 168 South Asians, along with whole-exome sequencing of 147 South Asians to provide deeper characterisation of coding regions. We identify 12,962,155 autosomal sequence variants, including 2,946,861 new SNPs and 312,738 novel indels. This catalogue of SNPs and indels amongst South Asians provides the first comprehensive map of genetic variation in this major human population, and reveals evidence for selective pressures on genes involved in skin biology, metabolism, infection and immunity. Our results will accelerate the search for the genetic variants underlying susceptibility to disorders such as type-2 diabetes and cardiovascular disease which are highly prevalent amongst South Asians.en_US
dc.description.sponsorshipWhole genome sequencing to discover genetic variants underlying type-2 diabetes, coronary heart disease and related phenotypes amongst Indian Asians. Imperial College Healthcare NHS Trust cBRC 2011-13 (JS Kooner [PI], JC Chambers).en_US
dc.publisherPublic Library of Scienceen_US
dc.subjectDNA sequencingen_US
dc.subjectGenome analysisen_US
dc.subjectSouth Asiansen_US
dc.subjectGenetics of diseaseen_US
dc.titleThe South Asian genomeen_US
dc.relation.isPartOfPLoS ONE-
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