An integrated map of structural variation in 2,504 human genomes.
An integrated map of structural variation in 2,504 human genomes.
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DOI：
10.1038/nature15394
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发表时间：
2015-10-01
期刊：
影响因子：
64.8
通讯作者：
Korbel JO
中科院分区：
文献类型：
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作者：
Sudmant PH;Rausch T;Gardner EJ;Handsaker RE;Abyzov A;Huddleston J;Zhang Y;Ye K;Jun G;Fritz MH;Konkel MK;Malhotra A;Stütz AM;Shi X;Casale FP;Chen J;Hormozdiari F;Dayama G;Chen K;Malig M;Chaisson MJP;Walter K;Meiers S;Kashin S;Garrison E;Auton A;Lam HYK;Mu XJ;Alkan C;Antaki D;Bae T;Cerveira E;Chines P;Chong Z;Clarke L;Dal E;Ding L;Emery S;Fan X;Gujral M;Kahveci F;Kidd JM;Kong Y;Lameijer EW;McCarthy S;Flicek P;Gibbs RA;Marth G;Mason CE;Menelaou A;Muzny DM;Nelson BJ;Noor A;Parrish NF;Pendleton M;Quitadamo A;Raeder B;Schadt EE;Romanovitch M;Schlattl A;Sebra R;Shabalin AA;Untergasser A;Walker JA;Wang M;Yu F;Zhang C;Zhang J;Zheng-Bradley X;Zhou W;Zichner T;Sebat J;Batzer MA;McCarroll SA;1000 Genomes Project Consortium;Mills RE;Gerstein MB;Bashir A;Stegle O;Devine SE;Lee C;Eichler EE;Korbel JO
结构变异与许多疾病有关，并构成了人类基因组中大部分不同的核苷酸。在这里，我们描述了一组完整的8个结构变异类别，包括平衡和不平衡的变异，我们使用短读段DNA测序数据构建，并在26个人群中统计分阶段到单倍型块。分析这一组，我们确定了许多基因交叉的结构变异表现出人口分层和描述自然发生的纯合基因敲除，这表明各种人类基因的可分配性。我们证明，结构变异富集在全基因组关联研究确定的单倍型上，并表现出表达数量性状位点的富集。此外，我们发现了不同尺度上的结构变异复杂性，包括重复重排簇的基因位点和可能通过单个突变事件形成的具有多个断点的复杂结构变异。我们的目录将加强未来的研究结构变异人口统计学，功能的影响和疾病的关联。本文的在线版本（doi：10.1038/nature 15394）包含补充材料，可供授权用户使用。千人基因组计划的结构变异分析小组报告了一个综合的结构变异图谱，该图谱基于对来自26个种群的2，504个无关个体的8个主要结构变异类别的发现和基因分型;结构变异在种群内和种群之间进行比较，并量化其功能影响。本文的在线版本（doi：10.1038/nature 15394）包含补充材料，可供授权用户使用。千人基因组计划的结构变异分析小组报告了一个综合的结构变异图，该图基于对来自26个种群的2,504个无关个体的基因组中8个主要结构变异类别的发现和基因分型。它们表征了种群内和种群间的结构变异，并量化了其功能效应。作者进一步创建了一个阶段性的参考面板，这将对群体遗传和疾病关联研究有价值。本文的在线版本（doi：10.1038/nature 15394）包含补充材料，可供授权用户使用。
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. Our catalogue will enhance future studies into structural variant demography, functional impact and disease association. The online version of this article (doi:10.1038/nature15394) contains supplementary material, which is available to authorized users. The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified. The online version of this article (doi:10.1038/nature15394) contains supplementary material, which is available to authorized users. The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in genomes for 2,504 unrelated individuals from across 26 populations. They characterize structural variation within and between populations and quantify its functional effect. The authors further create a phased reference panel that will be valuable for population genetic and disease association studies. The online version of this article (doi:10.1038/nature15394) contains supplementary material, which is available to authorized users.