First-Ever Full Sequencing of Unhealthy Genomes Illuminates Disease Roots

Thursday, March 11, 2010 - 12:56 in Biology & Nature

As sequencing becomes more affordable, the way forward for diagnosis is not DNA snippets, but full genome workups Despite coming from a range of different backgrounds, everyone whose genome has been fully sequenced has had one thing in common: they were all healthy. But now, two teams have decoded the first genomes of people who carry genetic diseases, with one group also performing the first-ever full sequencing of an entire nuclear family. By decoding the entire genome, rather than just snippets linked to a particular disease, the two research groups were able to identify the genetic roots of particular disorders more precisely than ever before, paving the way for a radical improvement in the usefulness of genetic diagnosis. Working independently, the different research teams, one based out of the Baylor College of Medicine in Houston, Texas, and the other working from both the University of Washington and the University of Utah...

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