The South Asian genome

John C. Chambers; James Abbott; Weihua Zhang; Ernest Turro; William R. Scott; Sian Tsung Tan; Uzma Afzal; Saima Afaq; Marie Loh; Benjamin Lehne; Paul O'Reilly; Kyle J. Gaulton; Richard D. Pearson; Xinzhong Li; Anita Lavery; Jana Vandrovcova; Mark N. Wass; Kathryn Miller; Joban Sehmi; Laticia Oozageer; Ishminder K. Kooner; Abtehale Al-Hussaini; Rebecca Mills; Jagvir Grewal; Vasileios Panoulas; Alexandra M. Lewin; Korrinne Northwood; Gurpreet S. Wander; Frank Geoghegan; Yingrui Li; Jun Wang; Timothy J. Aitman; Mark I. McCarthy; James Scott; Sarah Butcher; Paul Elliott; Jaspal S. Kooner

doi:10.1371/journal.pone.0102645

The South Asian genome

John C. Chambers, James Abbott, Weihua Zhang, Ernest Turro, William R. Scott, Sian Tsung Tan, Uzma Afzal, Saima Afaq, Marie Loh, Benjamin Lehne, Paul O'Reilly, Kyle J. Gaulton, Richard D. Pearson, Xinzhong Li, Anita Lavery, Jana Vandrovcova, Mark N. Wass, Kathryn Miller, Joban Sehmi, Laticia OozageerIshminder K. Kooner, Abtehale Al-Hussaini, Rebecca Mills, Jagvir Grewal, Vasileios Panoulas, Alexandra M. Lewin, Korrinne Northwood, Gurpreet S. Wander, Frank Geoghegan, Yingrui Li, Jun Wang, Timothy J. Aitman, Mark I. McCarthy, James Scott, Sarah Butcher, Paul Elliott, Jaspal S. Kooner

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

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.

Original language	English
Article number	e102645
Journal	PLoS ONE
Volume	9
Issue number	8
DOIs	https://doi.org/10.1371/journal.pone.0102645
State	Published - 12 Aug 2014
Externally published	Yes

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@article{946350967a634de7abb9ac006b1b2844,

title = "The South Asian genome",

abstract = "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.",

author = "Chambers, {John C.} and James Abbott and Weihua Zhang and Ernest Turro and Scott, {William R.} and Tan, {Sian Tsung} and Uzma Afzal and Saima Afaq and Marie Loh and Benjamin Lehne and Paul O'Reilly and Gaulton, {Kyle J.} and Pearson, {Richard D.} and Xinzhong Li and Anita Lavery and Jana Vandrovcova and Wass, {Mark N.} and Kathryn Miller and Joban Sehmi and Laticia Oozageer and Kooner, {Ishminder K.} and Abtehale Al-Hussaini and Rebecca Mills and Jagvir Grewal and Vasileios Panoulas and Lewin, {Alexandra M.} and Korrinne Northwood and Wander, {Gurpreet S.} and Frank Geoghegan and Yingrui Li and Jun Wang and Aitman, {Timothy J.} and McCarthy, {Mark I.} and James Scott and Sarah Butcher and Paul Elliott and Kooner, {Jaspal S.}",

year = "2014",

month = aug,

day = "12",

doi = "10.1371/journal.pone.0102645",

language = "English",

volume = "9",

journal = "PLoS ONE",

issn = "1932-6203",

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Chambers, JC, Abbott, J, Zhang, W, Turro, E, Scott, WR, Tan, ST, Afzal, U, Afaq, S, Loh, M, Lehne, B, O'Reilly, P, Gaulton, KJ, Pearson, RD, Li, X, Lavery, A, Vandrovcova, J, Wass, MN, Miller, K, Sehmi, J, Oozageer, L, Kooner, IK, Al-Hussaini, A, Mills, R, Grewal, J, Panoulas, V, Lewin, AM, Northwood, K, Wander, GS, Geoghegan, F, Li, Y, Wang, J, Aitman, TJ, McCarthy, MI, Scott, J, Butcher, S, Elliott, P & Kooner, JS 2014, 'The South Asian genome', PLoS ONE, vol. 9, no. 8, e102645. https://doi.org/10.1371/journal.pone.0102645

TY - JOUR

T1 - The South Asian genome

AU - Chambers, John C.

AU - Abbott, James

AU - Zhang, Weihua

AU - Turro, Ernest

AU - Scott, William R.

AU - Tan, Sian Tsung

AU - Afzal, Uzma

AU - Afaq, Saima

AU - Loh, Marie

AU - Lehne, Benjamin

AU - O'Reilly, Paul

AU - Gaulton, Kyle J.

AU - Pearson, Richard D.

AU - Li, Xinzhong

AU - Lavery, Anita

AU - Vandrovcova, Jana

AU - Wass, Mark N.

AU - Miller, Kathryn

AU - Sehmi, Joban

AU - Oozageer, Laticia

AU - Kooner, Ishminder K.

AU - Al-Hussaini, Abtehale

AU - Mills, Rebecca

AU - Grewal, Jagvir

AU - Panoulas, Vasileios

AU - Lewin, Alexandra M.

AU - Northwood, Korrinne

AU - Wander, Gurpreet S.

AU - Geoghegan, Frank

AU - Li, Yingrui

AU - Wang, Jun

AU - Aitman, Timothy J.

AU - McCarthy, Mark I.

AU - Scott, James

AU - Butcher, Sarah

AU - Elliott, Paul

AU - Kooner, Jaspal S.

PY - 2014/8/12

Y1 - 2014/8/12

N2 - 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.

AB - 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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U2 - 10.1371/journal.pone.0102645

DO - 10.1371/journal.pone.0102645

M3 - Article

C2 - 25115870

AN - SCOPUS:84905907595

SN - 1932-6203

VL - 9

JO - PLoS ONE

JF - PLoS ONE

IS - 8

M1 - e102645

ER -

The South Asian genome

Abstract

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