The 1,000 Genomes Project, an international initiative that is probing genetic variation in humans and which received EU funding through Health Theme of 7th Framework Programme, has released the results of its pilot phase. The initial findings already shed new light on the nature of genetic variation as well as its influence on disease, human history and evolution.

The overarching goal of the 1,000 Genomes Project is to catalogue human genetic variation by sequencing and comparing the genomes of 2,500 people from populations with origins in Europe, East Asia, South Asia, West Africa and the Americas. The aim of the pilot phase was to develop and compare different strategies for sequencing genomes on an unprecedented scale.

The study is published in the Journal Nature, and the consortium's findings are also available on the 1,000 Genomes Project website. The work was partly supported by the European Union through the ADAMS ('Genomic variations underlying common behavior diseases and cognition trait in human populations') and READNA ('Revolutionary approaches and devices for nucleic acid analysis') project, both of which are funded under the Health Theme of the Seventh Framework Programme (FP7).

During the pilot phase, the researchers sequenced the entire genomes of 179 people and the protein-coding genes of a further 697 people. This effort generated an impressive 4.9 terabases of DNA sequence (i.e. 4.9 million million base letters). Processing this information required the development of a specialised computing platform and a number of software innovations. Analysing the data revealed millions of genetic variants, most of which were unfamiliar to the team.

The results included some surprises. For example, it turns out that no-one carries a perfect set of genes; most people have between 250 and 300 genetic alterations that would prevent a gene from working normally and up to 100 genetic variations that have been associated with an inherited disease. However, as the researchers point out, everyone bears at least two copies of each gene, so as long as the second copy of the gene is in working order, individuals generally remain healthy.

The pilot phase included detailed investigations of a small number of family groups (mother, father and child). By comparing the genomes of the parents with that of the child, the team was able to work out how many mutations arise in each new generation. Their analyses revealed that each person has around 60 mutations that are not present in either parent.

Looking to the future, the team has already embarked on the next phase of the project, which should be completed by 2012.