Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences,Chinese Academy of Sciences Shanghai, China.
Front Genet. 2013 Jul 4;4:127. doi: 10.3389/fgene.2013.00127. eCollection 2013.
The 1000 Genomes Project (1KG) aims to provide a comprehensive resource on human genetic variations. With an effort of sequencing 2,500 individuals, 1KG is expected to cover the majority of the human genetic diversities worldwide. In this study, using analysis of population structure based on genome-wide single nucleotide polymorphisms (SNPs) data, we examined and evaluated the coverage of genetic diversity of 1KG samples with the available genome-wide SNP data of 3,831 individuals representing 140 population samples worldwide. We developed a method to quantitatively measure and evaluate the genetic diversity revealed by population structure analysis. Our results showed that the 1KG does not have sufficient coverage of the human genetic diversity in Asia, especially in Southeast Asia. We suggested a good coverage of Southeast Asian populations be considered in 1KG or a regional effort be initialized to provide a more comprehensive characterization of the human genetic diversity in Asia, which is important for both evolutionary and medical studies in the future.
1000 基因组计划（1KG）旨在提供人类遗传变异的综合资源。通过对 2500 个人进行测序，1KG 有望覆盖全球大多数人类遗传多样性。在这项研究中，我们使用基于全基因组单核苷酸多态性（SNP）数据的种群结构分析，对来自全球 140 个群体样本的 3831 个人的全基因组 SNP 数据进行了分析和评估，考察了 1KG 样本的遗传多样性覆盖情况。我们开发了一种定量测量和评估种群结构分析揭示的遗传多样性的方法。我们的结果表明，1KG 没有充分覆盖亚洲的人类遗传多样性，特别是东南亚地区。我们建议在 1KG 中纳入对东南亚人群的良好覆盖，或启动区域努力，以更全面地描述亚洲人类遗传多样性，这对未来的进化和医学研究都很重要。
