The 1000 Genomes Project

The 1000 Genomes Project - the project to sequence the genomes of around a thousand anonymous individuals - is well under way. Underpinned by the latest next-generation sequencing technology and analytical tools, the 1000 Genomes Project aims to provide a deep catalogue of human genetic variation at much higher resolution than has previously been obtained, building upon lower resolution variant mapping projects such as the HapMap Project.

The explicit goals are to find over 90% of the genetic variants at the 1% population frequency level or above in multiple populations across the world.

The project has already generated as much genomic sequence data as had been previously produced before it started. Initial data sets are already being released and are of great value to the research community, speeding up research into the mechanisms and causes of a whole raft of human diseases. It is also hoped that the information could be used to predict the risk of acquiring certain diseases in people who are currently healthy.

The Wellcome Trust Sanger Institute played a major role in the inception of the international consortium, which was announced in January 2008. The scale of the project is ambitious, and continues the forward momentum generated by the Human Genome Project.

The consortium comprises genomics institutes in England, the United States, China and Germany, and was joined in June 2008 by three of the commercial companies that pioneered the latest high-throughput sequencing technologies. The Sanger Institute was at the forefront of developing computational methods for efficient alignment of short sequencing reads and discovery of variants.

During the pilot phase of the project the Sanger Institute produced around 20% of the sequence data and has led in the mapping and variant calling from this data. Around 10 million new SNPs and genetic rearrangements have been discovered already from the pilot phase of the project alone, as well as confirming a similar number of previously known variants. An initial publication is expected in 2010. At the current rate of data gathering it is estimated that the full genomic sequences of approximately 1,000 people will have been completed by the end of 2009, delivering the primary aims of the project in 2010.

The 1000 Genomes Project "will provide a new foundation for human genetics", said Dr Richard Durbin, co-chair of the project and senior group leader at the Wellcome Trust Sanger Institute. "It will both enable more powerful interpretation of existing data, and also underpin new studies".

For more information, please visit the 1000 Genomes Project website.


  • 58th annual meeting american society of human genetics, 2008.

    Abouzaid S, Couto JE and Royo MB

    P & T : a peer-reviewed journal for formulary management 2009;34;2;92-4

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