1,000 Genomes Project completes first phase

The largest study of genetic differences between people to date - the 1,000 Genomes Project - has completed its pilot studies. The data is now freely available.

The 1,000 Genomes Project will now launch into its main phase, which involves sequencing the DNA of 2,500 people from 27 ethnic groups to identify genetic variations shared by many people that could contribute to disease.

'A decade ago, the Human Genome Project gave us the sequence of an individual human. The 1,000 Genomes Project is giving us the sequence of humanity as a species, of humans as a diverse population of individuals', Richard Durbin, of the Wellcome Trust Sanger Institute near Cambridge, who co-chairs the project, told The Times.

The pilot studies, launched in 2008, tested three sequencing strategies using high-throughput DNA screening technologies to examine many genomes and types of DNA variations.

One of the pilot studies focused on sequencing the coding regions of 1,000 genes taken from 700 people.

Another pilot study sequenced the genomes of six people from two nuclear families in detail to give a complete picture of within-family DNA variation. Each sample was sequenced 20 to 60 times using various techniques, according to Physorg.com.

The third pilot study sequenced the genomes of 179 people and then compared them to see which genetic variants they share.

The final pilot data is free for researchers worldwide to download from the 1000 Genomes Project and National Center for Biotechnology Information (NCBI) websites.

Researchers with slower computers can access the data using Amazon Web services' Elastic Compute Cloud.