Science and Research Content

1000 Genomes Project publishes map of genetic variations in journal 'Nature' -

The 1000 Genomes Project, an international public-private consortium, has published in the journal Nature, a comprehensive map of genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on earth. Researchers produced the map using next-generation DNA sequencing technologies to systematically characterise human genetic variation in 180 people in three pilot studies. Moreover, the full scale-up from the pilots is already under way, with data collected from more than 1,000 people.

The 1000 Genomes Project's aim is to provide a comprehensive public resource that supports researchers aiming to study all types of genetic variation that might cause human disease. The project's approach seeks to go beyond previous efforts in capturing and integrating data on all types of variation, and by studying samples from numerous human populations with informed consent allowing free data release without restriction on use. Already, these data have been used in studies of the genetic basis for disease.

Launched in 2008, the 1000 Genomes Project started with three pilot projects to develop, evaluate and compare strategies for producing a catalogue of genetic variations. Funded through numerous mechanisms by foundations and national governments, the project will reportedly cost about $120 million over five years, ending in 2012.

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