candidate gene sequencing
dgmacarthur | March 6, 2009Nejentsev et al. (2009). Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes. Science DOI: 10.1126/science.1167728
The first item on my long list of predictions for 2009 was that this will be the year of rare variants for common disease - the year that we really start tracking down the low-frequency genetic variants (between 0.1 and 5% in frequency) that likely contribute substantially to the risk of common diseases like arthritis and diabetes. It's far too early for me to claim vindication for this prediction, but a paper published online today…
dgmacarthur | October 24, 2008Over at PolITiGenomics, Washington University's David Dooling discusses his work as part of the Tumor Sequencing Project. The TSP and a variety of other groups (like The Cancer Genome Atlas) are using large-scale sequencing to create comprehensive maps of the genetic changes that underlie cancer formation.
The cancer genome sequencing community have already made impressive headway - Dooling notes two papers in this week's edition of Nature, one from the TSP on lung adenocarcinoma, and another from The Cancer Genome Atlas on glioblastoma (which received extensive media attention when it was…
dgmacarthur | October 14, 2008Navigenics has announced in the industry publication In Sequence (subscription only) that it plans to add gene sequencing to its personal genomics service. This would make it the first of the "Big Three" personal genomics companies (Navigenics, 23andMe and deCODEme) to offer analysis of rare as well as common genetic variants.
The move into sequencing has always been inevitable for the personal genomics industry. Currently all three of the major players in the affordable personal genomics field (as opposed to Knome's high-end service) use chip-based technology to analyse up to a million…