The South Asian genome

Chambers, John C., Abbott, James, Zhang, Weihua, Turro, Ernest, Scott, William R., Tan, Sian-Tsung, Afzal, Uzma, Afaq, Saima, Loh, Marie, Lehne, Benjamin, O'Reilly, Paul, Gaulton, Kyle J., Pearson, Richard D., Li, Xinzhong, Lavery, Anita, Vandrovcova, Jana, Wass, Mark N., Miller, Kathryn, Sehmi, Joban, Oozageer, Laticia, Kooner, Ishminder K., Al-Hussaini, Abtehale, Mills, Rebecca, Grewal, Jagvir, Panoulas, Vasileios, Lewin, Alexandra M., Northwood, Korrinne, Wander, Gurpreet S., Geoghegan, Frank, Li, Yingrui, Wang, Jun, Aitman, Timothy J., McCarthy, Mark I., Scott, James, Butcher, Sarah, Elliott, Paul and Kooner, Jaspal S. (2014) The South Asian genome. PLoS ONE, 9 8: 1-10. doi:10.1371/journal.pone.0102645

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Author Chambers, John C.
Abbott, James
Zhang, Weihua
Turro, Ernest
Scott, William R.
Tan, Sian-Tsung
Afzal, Uzma
Afaq, Saima
Loh, Marie
Lehne, Benjamin
O'Reilly, Paul
Gaulton, Kyle J.
Pearson, Richard D.
Li, Xinzhong
Lavery, Anita
Vandrovcova, Jana
Wass, Mark N.
Miller, Kathryn
Sehmi, Joban
Oozageer, Laticia
Kooner, Ishminder K.
Al-Hussaini, Abtehale
Mills, Rebecca
Grewal, Jagvir
Panoulas, Vasileios
Lewin, Alexandra M.
Northwood, Korrinne
Wander, Gurpreet S.
Geoghegan, Frank
Li, Yingrui
Wang, Jun
Aitman, Timothy J.
McCarthy, Mark I.
Scott, James
Butcher, Sarah
Elliott, Paul
Kooner, Jaspal S.
Title The South Asian genome
Journal name PLoS ONE   Check publisher's open access policy
ISSN 1932-6203
Publication date 2014-08-12
Year available 2014
Sub-type Article (original research)
DOI 10.1371/journal.pone.0102645
Open Access Status DOI
Volume 9
Issue 8
Start page 1
End page 10
Total pages 10
Place of publication San Francisco, CA United States
Publisher Public Library of Science
Collection year 2015
Language eng
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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 6 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 8 times in Scopus Article | Citations
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Created: Tue, 24 Mar 2015, 10:42:43 EST by Korinne Northwood on behalf of School of Medicine