1000 Genomes Project: a molecular world survey

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The goal of the 1000 Genomes Project was to identify clear genetic differences between humans. This has now being achieved after the international consortium deciphered and analysed more than a thousand human genomes. Source: EMBL-EBI/S.Phillips

07.11.2012  - 

Although they’re unlikely to change their name as a result, the ‘1000 Genomes Consortium’ has now completely deciphered the genomes of a full 1,092 individuals from around the world. The results have been presented in Nature (2012, Vol. 491, pp. 56-65). Since 2008, the international research team has been compiling information on the DNA of people from 14 different population groups to create a genetic map of the human world. The results: researchers have documented changes at 38 million unique locations. The freely available data will now be used to identify genetic differences among populations; among other things these can affect disease progression and drug efficacy. The project is being funded with €7 million by the Federal Ministry of Education and Research (BMBF). Involved in the undertaking were molecular biologists from the Max Planck Institute for Molecular Genetics in Berlin and the European Molecular Biology Laboratory in Heidelberg.

The publication from the 1000 Genomes Consortium in the journal Nature could well prove to be a milestone in medical research. For the past four years, the researchers have been charting global genetics. The project involved deciphering the complete genetic makeup of people from 14 populations, taking in all the continents. The majority of the genomes were determined in a concerted effort in 2011, and a further 12 populations are now set to follow. German participation in the project is made possible by a BMBF grant to the Max Planck Institute for Molecular Genetics in Berlin, totalling around seven million euros. The European Molecular Biology Laboratory (EMBL) in Heidelberg is also involved in the undertaking.

38 million variations

“The study provides the first comprehensive map of the human genome that indicates how often a number of variants occur at a specific location of the genome,” says EMBL researcher Jan Korbel. “The investigation gives us an improved understanding of the genome.” The researchers selected specific individual populations with the aim of studying genetic abnormalities with respect to genetic variations within population groups. In the course of their work, they documented 38 million changes at individual locations (known as SNPs), 1.4 million short insertions, as well as 14,000 longer insertions or deletions from the DNA sequence. “We're all ongoing experiments of nature,” says co-author Gil McVean from the University of Oxford. “Everyone who appears healthy on the outside carries hundreds of rare variants. Most of these strongly influence the activity of genes; some – we estimate two to five per person – are associated with some kind of disease.” The international research team tended to find the rare variations in geographically isolated regions, while more frequent deviations were found worldwide in all studied populations. The scientists suspect that most of the genetic variants associated with diseases only occur in one in 100 people or fewer. Their objective is to find these rare variants and analyse how they contribute to the development of diseases such as multiple sclerosis, heart disease or cancer.

Drugs with an ethnic flavour

“When scientists encounter a SNP – a genetic modification at a single base pair – that is associated with a specific disease, it is now possible to check whether this is accompanied by a change in a larger portion of the genome that is always inherited together with this SNP, and which could thus cause disease,” says Korbel.

The sequences of the 1000 Genomes Project will also be of great value to drug development. To date, most drugs are tested on Europeans and Americans, although they could have a different effect on Africans or Asians. “This is why it is so important to have as global sequence data as possible,” says Korbel. “Even in advance, this helps researchers to find indications of potential problems.” The project is supported among others by the Wellcome Trust Sanger Institute (UK), the Beijing Genomics Institute Shenzhen (China) and the National Human Genome Research Institute (USA).

A public wealth of online data

Alongside medicine, the field of evolution research is also set to benefit from this vast wealth of data, which the consortium has presented and made freely available on its website. The results provide a glimpse of how genetic sequences are distributed across the globe via population changes – for example with the European colonisation of the African and American continents.

The primary role of the data coordinating team is now to prepare the project data in such a way that it serves scientists from a range of different disciplines. “Much like ENCODE and other large data sets, it will be critical here for scientists from all the areas of medical and biomedical research to be able to optimally use the data. For this reason, the data are not only made public but are also properly prepared.” Data from the first phase are already online along with tools to help interested researchers to evaluate the more than 38 million variations.

Although the researchers in the 1000 Genomes Consortium have already reached their original objective, in the next project phase they want to sequence a further 1,500 genomes from twelve different populations. The participation of the Max Planck Institute for Molecular Genetics in the 1000 Genomes Project is funded by the Federal Ministry of Education and Research, which is supporting the participation of researchers in Berlin as part of the Genome Research NGFN-Plus.

Author: Cornelia Kästner