Human genetic variation mapped across 1,000 genomes

(Before It's News)

PCA analysis of 1000 Genomes (1000G, Nature 2012)

This week marked an important milestone in our understanding of human genetic variation: the main publication of the 1,000 Genomes Project. The article in Nature describes the genomes from 1,092 individuals representing 14 populations across Europe, Africa, Asia, and the Americas. I think it’s important for anyone working in human genetics and genomics to read this paper, for a few reasons:

1. It represents the most comprehensive characterization of rare variation, including SNPs, indels, and structural variants (SVs)
2. The patterns of genetic variation reveal much about human population history and diversity
3. The findings and methodology were produced by a collaboration included many (if not most) of the research leaders in sequencing, genomics, and human genetics.

The last reason may be one of the most significant achievements of this project, because it establishes (1) analysis methods and (2) a catalog of genetic variation that can leveraged by future studies. Indeed, participants in this project have driven forward advances in many areas of NGS analysis, including base quality recalibration, variant calling, and detection of structural variation…

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