This month, the 1,000 Genomes Project published its final two papers, based on the analysis of 2,504 genomes of individuals from 26 populations in five continental regions. The broad sample gives insight into the level of normal genetic variation in humans. The first paper reported over 88 million genetic variants affecting up to 500 bases and described the distribution of genetic variation across the study sample. The second paper found that structural variants are common in human genomes and, despite their infrequency compared to SNPs, have disproportionate effects. Both studies improved upon the accuracy and sensitivity of sequencing, allowing increased detection of indel mutations. The resulting data set correlating mutations with SNPs may be used for genome-wide association studies (GWAS). With techniques such as genotyping arrays, scientists can use such data sets to infer variation, and identify variants associated with disease that occur at a lower frequency than can be detected by GWAS.

Source: Nature