Remarkable advancement in DNA sequencing (NGS) technology has made personal genome analysis feasible and affordable. Here we present the whole genome sequencing and analysis of three individuals, two males and one female, from different parts of India. Comparison with the Reference Human Genome and the variant database showed a total of 4.0–4.85 million variants, primarily single nucleotide variants (SNVs), 350-600 K small insertions and deletions (INDELs), and previously unreported novel variants. The analysis of Y-chromosome and mitochondrial haplogroups revealed that the ancestors of the individual arrived on the subcontinent at very different times using distinctly different migration routes. Approximately, 500,000 novel SNPs and about 89,000 novel INDELs have been submitted to the NCBI as novel variants. PCA and Admix analysis revealed that the IHGP03, a Mizoram male from the Northeast region, is strikingly different from the other two Indian genomes. Collectively, the data suggest the complexity of the Indian population admix developed from several distinct waves of human migration over tens of thousands of years.

DNA 测序 (NGS) 技术的显着进步使个人基因组分析变得可行且经济实惠。在这里，我们展示了来自印度不同地区的三名个体（两名男性和一名女性）的全基因组测序和分析。与参考人类基因组和变异数据库的比较显示，总共有 4.0-485 万个变异，主要是单核苷酸变异 (SNV)、350-600 K 小插入和缺失 (INDEL) 以及之前未报道的新变异。对 Y 染色体和线粒体单倍群的分析表明，个体的祖先在非常不同的时间使用截然不同的迁徙路线到达次大陆。大约 500,000 个新型 SNP 和大约 89,000 个新型 INDEL 已作为新型变体提交给 NCBI。PCA 和 Admix 分析显示，来自东北地区的米佐拉姆男性 IHGP03 与其他两个印度基因组显着不同。总的来说，这些数据表明印度人口混合的复杂性是由数万年来几次不同的人类迁徙浪潮发展而来的。