1000 genomes for mankind

Completed project creates largest catalogue of global genomic diversity

With the completion of the 1000 Genomes Project, the genomes of 2,504 individuals from around the world have been analysed, creating the largest catalogue of global human genomic differences to date. This database of genetic diversity will help scientists understand the patterns of genetic variation in humans and support researchers who are using genetic methods to study why some people are susceptible to various diseases.

The 1000 Genomes Project was set up in 2008 as an international collaboration to produce a systematic public catalogue of shared human genetic variation. The ultimate goal of the project was to have detailed genetic information on at least 1,000 people as a platform to underpin medical genetics.

The genomes of people from 26 populations and 18 countries across Africa, East and South Asia, Europe and the Americas were analysed and more than 88 million variants – which mark genetic differences within and among populations – were catalogued.

“We now have a public repository that describes the range and diversity of genetic variation around the world. We now know which genes rarely change and which are altered in different populations.”

Professor Goncalo Abecasis A corresponding author of the paper and Chair of the University of Michigan, School of Public Health Biostatistics Department

Of the more than 88 million sites in the human genome that vary among people, about 12 million have common variants that are shared by many of the populations. The study confirmed that the greatest genomic diversity is in African populations, consistent with evidence that humans originated in Africa and then migrated outwards to other parts of the world.

“Over the course of the 1000 Genomes Project, we have dramatically improved our knowledge of variation in the human genome. Now, the key challenge for the community is to understand how this variation influences disease.”

Lead author Professor Adam Auton who conducted the research while at the Albert Einstein College of Medicine in New York, and recently moved to the private genetic mapping company 23andMe

The catalogue more than doubles the number of known variant sites in the human genome, and can now be used in a wide range of studies of human biology and medicine, providing the basis for a new understanding of how inherited differences in DNA can contribute to disease risk and drug response.

“The database is freely and publically accessible to researchers as a standard reference for how the populations of people vary in their genomic make-up. In developing the resource over the past seven years we have not only generated these key reference data, but also have developed the standards for analysing human genomes that are now becoming used in clinical settings to help patients.”

Professor Richard Durbin Head of Computational Genomics at the Wellcome Trust Sanger Institute and co-chair of the 1000 Genomes Project

This research has been reviewed by fellow Wellcome Genome Campus researchers Dr Ewan Birney and Dr Nicole Soranzo in the same issue of Nature.

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Funding

The Wellcome Trust provided funding for the 1000 Genomes project. Additional grant support and acknowledgements can be found in the paper.