The African Genome Variation Project shapes medical genetics in Africa.
The African Genome Variation Project shapes medical genetics in Africa.
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DOI：
10.1038/nature13997
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发表时间：
2015-01-15
期刊：
影响因子：
64.8
通讯作者：
Sandhu, Manjinder S.
中科院分区：
文献类型：
--
作者：
Gurdasani, Deepti;Carstensen, Tommy;Tekola-Ayele, Fasil;Pagani, Luca;Tachmazidou, Ioanna;Hatzikotoulas, Konstantinos;Karthikeyan, Savita;Iles, Louise;Pollard, Martin O.;Choudhury, Ananyo;Ritchie, GrahamR. S.;Xue, Yali;Asimit, Jennifer;Nsubuga, Rebecca N.;Young, Elizabeth H.;Pomilla, Cristina;Kivinen, Katja;Rockett, Kirk;Kamali, Anatoli;Doumatey, Ayo P.;Asiki, Gershim;Seeley, Janet;Sisay-Joof, Fatoumatta;Jallow, Muminatou;Tollman, Stephen;Mekonnen, Ephrem;Ekong, Rosemary;Oljira, Tamiru;Bradman, Neil;Bojang, Kalifa;Ramsay, Michele;Adeyemo, Adebowale;Bekele, Endashaw;Motala, Ayesha;Norris, Shane A.;Pirie, Fraser;Kaleebu, Pontiano;Kwiatkowski, Dominic;Tyler-Smith, Chris;Rotimi, Charles;Zeggini, Eleftheria;Sandhu, Manjinder S.
鉴于非洲对人类起源和疾病易感性研究的重要性，需要详细描述非洲遗传多样性。非洲基因组变异项目提供了在撒哈拉以南非洲和全世界设计、实施和解释基因组研究的资源。非洲基因组变异项目代表了撒哈拉以南非洲地区1481个个体的密集基因型和320个个体的全基因组序列。利用这一资源，我们在撒哈拉以南非洲地区发现了复杂的、区域独特的狩猎采集者和欧亚混血人的新证据。我们在选择中发现了新的基因座，包括与疟疾易感性和高血压相关的基因座。我们表明，现代归算面板（参考基因型集，从中可以推断研究集中未观察到或缺失的基因型集）可以识别撒哈拉以南非洲人群中高度分化位点的关联信号。利用全基因组测序，我们证明了在插补精度方面的进一步改进，加强了对非洲不同单倍型的大规模测序工作。最后，我们提出了一种有效的基因型阵列设计，可以捕获非洲常见的遗传变异。本文的在线版本（doi:10.1038/nature13997）包含补充材料，可供授权用户使用。非洲基因组变异计划包含来自撒哈拉以南非洲的320个人的全基因组序列和1481个人的密集基因型；它使设计和解释基因组研究成为可能，对寻找疾病位点和人类起源线索具有重要意义。本文的在线版本（doi:10.1038/nature13997）包含补充材料，可供授权用户使用。非洲基因组变异项目（AGVP）正在收集非洲基因组结构的数据，为非洲的遗传疾病研究提供一个中心资源。它目前代表了撒哈拉以南非洲地区1481个个体的密集基因型和320个个体的全基因组序列。利用这些数据，Manjinder Sandhu和他的同事们在选择中发现了新的基因座，包括与疟疾和高血压相关的基因座。他们表明，现代归算面板可以在人群中高度分化的位点上识别关联信号。他们证明了全基因组序列在进一步提高代入精度方面的效用。此外，他们还描述了第一个捕获非洲常见遗传变异的有效基因型阵列设计。本文的在线版本（doi:10.1038/nature13997）包含补充材料，可供授权用户使用。
Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa. The online version of this article (doi:10.1038/nature13997) contains supplementary material, which is available to authorized users. The African Genome Variation Project contains the whole-genome sequences of 320 individuals and dense genotypes on 1,481 individuals from sub-Saharan Africa; it enables the design and interpretation of genomic studies, with implications for finding disease loci and clues to human origins. The online version of this article (doi:10.1038/nature13997) contains supplementary material, which is available to authorized users. The African Genome Variation Project (AGVP) is collecting data on the structure of African genomes to provide a central resource for genetic disease studies in Africa. It currently represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using these data, Manjinder Sandhu and colleagues identify new loci under selection, including those associated with malaria and hypertension. They show that modern imputation panels can identify association signals at highly differentiated loci across population groups. They demonstrate the utility of whole-genome sequences in further improving the imputation accuracy. In addition, they describe the first efficient genotype array design capturing common genetic variation in Africa. The online version of this article (doi:10.1038/nature13997) contains supplementary material, which is available to authorized users.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
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影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
影响因子：
3
作者：
Eid, Nahid A.;Hussein, Aymen A.;Ibrahim, Muntaser E.
通讯作者：
Ibrahim, Muntaser E.
DOI：
10.1098/rstb.2011.0299
发表时间：
2012-03-19
影响因子：
6.3
作者：
Andersen, Kristian G.;Shylakhter, Ilya;Sabeti, Pardis C.
通讯作者：
Sabeti, Pardis C.
影响因子：
6.5
作者：
Machado, Patricia;Pereira, Rui;Arez, Ana Paula
通讯作者：
Arez, Ana Paula