October 30, 2012
A core belief at HudsonAlpha is that collaboration expedites the transfer of discoveries made in the lab to the development of therapies and services that help patients. Broadly, it is interesting to see how information gleaned by consortiums working on different projects may come together to advance understanding of human disease and result in new tools and treatments.
1000 Genomes Project and ENCODE
In the 1 November issue of Nature, a large consortium published a description of the 1000 Genomes Project. They described the sequencing of 1092 genomes from different populations around the world and the picture of human genetic variation they were able to paint by comparing these sequences to each other. Before this project, scientists had a more Impressionist view of ways that humans differ from each other, with broad strokes capturing common variants. Now, thanks to the deeper genome sequencing employed in the 1000 Genomes Project, scientists are able to focus the picture on rare genomic variations which could be related to disease.