The South Asian genome

The 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 o...

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Main Authors: Chambers, J, Abbott, J, Zhang, W, Turro, E, Scott, W, Tan, S, Afzal, U, Afaq, S, Loh, M, Lehne, B, O'Reilly, P, Gaulton, K, Pearson, R, Li, X, Lavery, A, Vandrovcova, J, Wass, M, Miller, K, Sehmi, J, Oozageer, L, Kooner, I, Al-Hussaini, A, Mills, R, Grewal, J, Panoulas, V, Lewin, A, Northwood, K, Wander, G, Geoghegan, F, Li, Y, Wang, J, Aitman, T, McCarthy, M, Scott, J, Butcher, S, Elliott, P, Kooner, J
格式: Journal article
语言:English
出版: Public Library of Science 2014
_version_ 1826291938069839872
author Chambers, J
Abbott, J
Zhang, W
Turro, E
Scott, W
Tan, S
Afzal, U
Afaq, S
Loh, M
Lehne, B
O'Reilly, P
Gaulton, K
Pearson, R
Li, X
Lavery, A
Vandrovcova, J
Wass, M
Miller, K
Sehmi, J
Oozageer, L
Kooner, I
Al-Hussaini, A
Mills, R
Grewal, J
Panoulas, V
Lewin, A
Northwood, K
Wander, G
Geoghegan, F
Li, Y
Wang, J
Aitman, T
McCarthy, M
Scott, J
Butcher, S
Elliott, P
Kooner, J
author_facet Chambers, J
Abbott, J
Zhang, W
Turro, E
Scott, W
Tan, S
Afzal, U
Afaq, S
Loh, M
Lehne, B
O'Reilly, P
Gaulton, K
Pearson, R
Li, X
Lavery, A
Vandrovcova, J
Wass, M
Miller, K
Sehmi, J
Oozageer, L
Kooner, I
Al-Hussaini, A
Mills, R
Grewal, J
Panoulas, V
Lewin, A
Northwood, K
Wander, G
Geoghegan, F
Li, Y
Wang, J
Aitman, T
McCarthy, M
Scott, J
Butcher, S
Elliott, P
Kooner, J
author_sort Chambers, J
collection OXFORD
description The 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.
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spelling oxford-uuid:b2e39e5b-d0c1-41dd-a87d-ee365e0c583f2022-03-27T04:15:06ZThe South Asian genomeJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b2e39e5b-d0c1-41dd-a87d-ee365e0c583fEnglishSymplectic Elements at OxfordPublic Library of Science2014Chambers, JAbbott, JZhang, WTurro, EScott, WTan, SAfzal, UAfaq, SLoh, MLehne, BO'Reilly, PGaulton, KPearson, RLi, XLavery, AVandrovcova, JWass, MMiller, KSehmi, JOozageer, LKooner, IAl-Hussaini, AMills, RGrewal, JPanoulas, VLewin, ANorthwood, KWander, GGeoghegan, FLi, YWang, JAitman, TMcCarthy, MScott, JButcher, SElliott, PKooner, JThe 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.
spellingShingle Chambers, J
Abbott, J
Zhang, W
Turro, E
Scott, W
Tan, S
Afzal, U
Afaq, S
Loh, M
Lehne, B
O'Reilly, P
Gaulton, K
Pearson, R
Li, X
Lavery, A
Vandrovcova, J
Wass, M
Miller, K
Sehmi, J
Oozageer, L
Kooner, I
Al-Hussaini, A
Mills, R
Grewal, J
Panoulas, V
Lewin, A
Northwood, K
Wander, G
Geoghegan, F
Li, Y
Wang, J
Aitman, T
McCarthy, M
Scott, J
Butcher, S
Elliott, P
Kooner, J
The South Asian genome
title The South Asian genome
title_full The South Asian genome
title_fullStr The South Asian genome
title_full_unstemmed The South Asian genome
title_short The South Asian genome
title_sort south asian genome
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