1000 Genome-wide Association Studies Lack Global Coverage

Ever since the human genome was successfully sequenced, scientists have found over 1,000 regions on the genome that have an association with traits such as disease susceptibility and response to medication. This information alone would be of little use, without knowing why certain populations or ethnic groups are more at risk for a particular condition than another population. Hence it is important to find the differences in the DNA sequence (genetic variations) between populations that make some groups vulnerable and some other resistant to certain diseases/conditions.

Principal Intent

The principal intent of the 1,000 Genome-Wide Association Studies (GWAS), which was started in 2008, was to understand these genetic variations. Three pilot projects have provided some invaluable information. The first pilot project sequenced the genomes of two parents and their child. The second one sequenced the genomes of 179 people, and the third pilot project involved a larger number — 700 people.  The project now plans to sequence 2,500 genomes of individuals from 27 populations. These people have consented to the release of their DNA samples and full sequence data. But will the final outcome of the 1,000 Genome-wide Association Studies be fruitful? “The findings…are likely to have less relevance than was previously thought for the world’s population as a whole,” note the authors of a Comment piece published today (July 14) in Nature.

Go Back To Main Page