High-depth African genomes inform human migration and health.
High-depth African genomes inform human migration and health.
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DOI：
10.1038/s41586-020-2859-7
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发表时间：
2020-10
期刊：
影响因子：
64.8
通讯作者：
Hanchard NA
中科院分区：
文献类型：
--
作者：
Choudhury A;Aron S;Botigué LR;Sengupta D;Botha G;Bensellak T;Wells G;Kumuthini J;Shriner D;Fakim YJ;Ghoorah AW;Dareng E;Odia T;Falola O;Adebiyi E;Hazelhurst S;Mazandu G;Nyangiri OA;Mbiyavanga M;Benkahla A;Kassim SK;Mulder N;Adebamowo SN;Chimusa ER;Muzny D;Metcalf G;Gibbs RA;TrypanoGEN Research Group;Rotimi C;Ramsay M;H3Africa Consortium;Adeyemo AA;Lombard Z;Hanchard NA
非洲大陆被认为是现代人类的摇篮，非洲基因组包含的遗传变异比任何其他大陆的基因组都多，但非洲人的遗传多样性只有一小部分得到了调查。在这里，我们对426个人进行了全基因组测序分析，包括50个民族语言群体，包括以前未采样的人群，以探索整个非洲基因组多样性的广度。我们发现了超过300万个以前未描述的变异，其中大多数是在新采样的民族语言群体中发现的，以及62个以前未报道的基因座，这些基因座在强选择下主要存在于参与病毒免疫，DNA修复和代谢的基因中。在种群内部和种群之间，我们观察到复杂的祖先混合模式、推定破坏和新变异，同时有证据表明，赞比亚可能是班图语种群扩张路线上的一个中间地点。目前被定性为医学相关的基因的致病变异并不常见，但在其他基因中，通常可以观察到ClinVar数据库中被标记为“可能致病”的变异。总的来说，这些发现完善了我们目前对大陆移民的理解，确定了基因流动和对人类疾病的反应是基因组水平种群变异的强大驱动因素，并强调了更广泛地表征非洲个体基因组多样性以了解人类祖先和改善健康的科学必要性。非洲人口的全基因组测序分析提供了对大陆迁移、基因流动和对人类疾病的反应的见解，突出了将不同人口纳入基因组分析以了解人类祖先和改善健康的重要性。
The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic’ in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health. Whole-genome sequencing analyses of African populations provide insights into continental migration, gene flow and the response to human disease, highlighting the importance of including diverse populations in genomic analyses to understand human ancestry and improve health.
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影响因子：
64.8
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.
通讯作者：
Sandhu, Manjinder S.
DOI：
10.1126/science.1193032
发表时间：
2010-08-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Genovese G;Friedman DJ;Ross MD;Lecordier L;Uzureau P;Freedman BI;Bowden DW;Langefeld CD;Oleksyk TK;Uscinski Knob AL;Bernhardy AJ;Hicks PJ;Nelson GW;Vanhollebeke B;Winkler CA;Kopp JB;Pays E;Pollak MR
通讯作者：
Pollak MR
影响因子：
9.8
作者：
Haber M;Mezzavilla M;Bergström A;Prado-Martinez J;Hallast P;Saif-Ali R;Al-Habori M;Dedoussis G;Zeggini E;Blue-Smith J;Wells RS;Xue Y;Zalloua PA;Tyler-Smith C
通讯作者：
Tyler-Smith C
影响因子：
3.9
作者：
Campbell IM;Gambin T;Jhangiani S;Grove ML;Veeraraghavan N;Muzny DM;Shaw CA;Gibbs RA;Boerwinkle E;Yu F;Lupski JR
通讯作者：
Lupski JR
影响因子：
4.4
作者：
Babbi G;Martelli PL;Profiti G;Bovo S;Savojardo C;Casadio R
通讯作者：
Casadio R