The results of the first phase of the 1000 Genomes Project have been published in Nature. The $120 million project sequenced the genomes of 1,092 people from 14 populations to study variants in the human genome that are present in at least one in 50 individuals. When the project is complete next year, it will incorporate the genomes of 2,500 people from 26 populations. The project is the largest and most comprehensive collection of genetic variants. Each part of the genomes was sequenced an average of six times. To study rare variants in the exome, the exons of 15,000 genes were sequenced an average of 80 times. Results showed 99.8% of exome variants with a frequency of at least 1%, and 99.3% of other variants with a frequency of at least 1%. Thirty-eight million single nucleotide polymorphisms, which are the most common DNA variants, were found. Also identified were variants in the linear structure of DNA, including 1.4 million short indels and 14,000 large DNA deletions.

Source: NIH