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.
Powerful discoveries about human health will result from combining the 1000 Genomes data with that of other large projects, like the ENCODE Project carried out at HudsonAlpha.
“Our labs, like others around the world, use the 1000 Genomes data to lay down a base understanding of where people are different from each other. If we see a genomic variation between people that seems to be linked to disease, we can then consult the ENCODE data to try and understand how that might be the case,” said Chris Gunter, Ph.D., HudsonAlpha director of research affairs. “For example, we can see in ENCODE data that changing one base –or letter of the genome– to another in some people might mean that a specific protein can no longer bind at the start of a gene, and thus that gene’s product is not produced at the levels the cell needs to function properly.”
Read the review of the 1000 Genomes Project found in The Scientist.