A global reference for human genetic variation.
A global reference for human genetic variation.
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DOI：
10.1038/nature15393
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发表时间：
2015-10-01
期刊：
影响因子：
64.8
通讯作者：
Abecasis GR
中科院分区：
文献类型：
--
作者：
1000 Genomes Project Consortium;Auton A;Brooks LD;Durbin RM;Garrison EP;Kang HM;Korbel JO;Marchini JL;McCarthy S;McVean GA;Abecasis GR
千人基因组计划旨在通过对来自多个种群的不同个体进行全基因组测序，对常见的人类遗传变异进行全面描述。在这里，我们报告了该项目的完成，利用低覆盖率全基因组测序、深度外显子组测序和密集微阵列基因分型的组合，重建了来自26个种群的2504个个体的基因组。我们描述了广泛的遗传变异，总共超过8800万个变异（8470万个单核苷酸多态性（SNPs）， 360万个短插入/缺失（indels）和6万个结构变异），所有这些变异都进入了高质量的单倍型。该资源包括> - 99%的SNP变异，频率为> - 1%，适用于各种祖先。我们描述了遗传变异在全球样本中的分布，并讨论了对常见疾病研究的影响。本文的在线版本（doi:10.1038/nature15393）包含补充材料，可供授权用户使用。1000基因组计划最后阶段的结果包括全基因组测序、靶向外显子组测序和高密度SNP阵列的基因分型，涵盖26个种群的2504个个体，为支持生物医学遗传学提供了全球参考数据集。本文的在线版本（doi:10.1038/nature15393）包含补充材料，可供授权用户使用。千人基因组计划寻求对不同人群的人类遗传变异进行全面编目，提供有价值的公共基因组资源。迄今为止获得的数据已被广泛应用，从关联研究和精细制图研究到筛选罕见疾病队列中可能的中性变异。作者现在报告该项目的最后阶段，即第3阶段，该阶段涵盖了从取样的种群和特征变异的类别来看，以前未被描述的人类遗传多样性领域。该样本目前包括来自26个全球种群的2500多名个体，具有低覆盖率的全基因组和深度外显子组测序，以及密集的微阵列基因分型。他们发现，虽然大多数常见的变异在人群中是共享的，但罕见的变异往往仅限于密切相关的人群。作者还演示了使用第3阶段数据集作为一个参考面板的插补，以提高遗传关联研究的分辨率。本文的在线版本（doi:10.1038/nature15393）包含补充材料，可供授权用户使用。
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. The online version of this article (doi:10.1038/nature15393) contains supplementary material, which is available to authorized users. Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics. The online version of this article (doi:10.1038/nature15393) contains supplementary material, which is available to authorized users. The 1000 Genomes Project has sought to comprehensively catalogue human genetic variation across populations, providing a valuable public genomic resource. The data obtained so far have found applications ranging from association studies and fine mapping studies to the filtering of likely neutral variants in rare-disease cohorts. The authors now report on the final phase of the project, phase 3, which covers previously uncharacterized areas of human genetic diversity in terms of the populations sampled and categories of characterized variation. The sample now includes more than 2,500 individuals from 26 global populations, with low coverage whole-genome and deep exome sequencing, as well as dense microarray genotyping. They find that while most common variants are shared across populations, rarer variants are often restricted to closely related populations. The authors also demonstrate the use of the phase 3 dataset as a reference panel for imputation to improve the resolution in genetic association studies. The online version of this article (doi:10.1038/nature15393) contains supplementary material, which is available to authorized users.