rare variants
dgmacarthur | August 26, 2009Complete Genomics is finally back on the road towards fulfilling its promises of $5000 human genome sequences, after delays in obtaining funding for a massive new facility pushed back its plans by six months. The $45 million in funding it announced this week will be sufficient to build the new Silicon Valley facility, which the company claims will have the capacity to sequence a staggering 10,000 genomes over the course of 2010.
Complete Genomics is an unusual creature in the second-generation sequencing menagerie: instead of aiming to generate revenue by selling machines to researchers and…
dgmacarthur | June 12, 2009Harvard biostatistician Peter Kraft (co-author of an excellent recent article on genetic risk prediction in the New England Journal of Medicine) has just added an interesting comment on his experience of this week's Consumer Genetics Show:
I just wanted to share what for me were two stand-out moments at the
CGS. First was Zak Kohane's discussion of the "Incidentalome"--a great
turn of phrase that captures something I've been mulling over myself.
(A less eloquent statement of this idea made it into the recent Nick
Wade NYT article on genetic risk prediction). Basically, the idea is
that even…
dgmacarthur | June 11, 2009The buzz leading up to this week's Consumer Genetics Show in Boston suggested that a major announcement would be made by the CEO of genomics technology provider Illumina, Jay Flatley. Illumina provides the most popular second-generation sequencing instrument currently on the market, the Genome Analyzer II, and has been making noises about moving into the personal genomics industry since at least the beginning of the year, so the announcement itself was not exactly a shock: Illumina is launching a personal genome sequencing service.
The launch comes with a new website, the appealingly titled…
dgmacarthur | April 16, 2009The latest issue of the New England Journal of Medicine has four excellent and thought-provoking articles on the recent revolution in the genetics of common disease and its implications for personalised medicine and personal genomics. Razib and Misha Angrist have already commented, and there's also a thorough lay summary by Nick Wade in the NY Times.
The scene is set by a brief but useful review of progress in genome-wide studies of human disease, which is worth reading if you need to get yourself up to speed on the scope of progress in modern disease genomics. The main course, however, is…
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 | February 9, 2009I'll be uploading a few of what I saw as the highlights from the AGBT meeting over the next week or so, as I go over my notes - you can also browse over Anthony Fejes' blog for live-blogging of many of the sessions. In no particular order, here are some of the tid-bits gleaned from Friday's sessions.
Kari Stefansson gave an overview of some of the latest results coming out from deCODE Genetics. He argued that combining multiple genetic variants for common diseases can now give clinically useful results - e.g. their work on thyroid cancer (published today in Nature Genetics) shows that the 3.7…
dgmacarthur | January 19, 2009Well, it's a little late, but I finally have a list of what I see as some of the major trends that will play out in the human genomics field in 2009 - both in terms of research outcomes, and shifts in the rapidly-evolving consumer genomics industry.
For genetics-savvy readers a lot of these predictions may seem, well, predictable, so I want to emphasise that my purpose here is not really to make risky forecasts; I'm more interested in laying out what I see as the major big picture trends for the year to come, with a few specific predictions about unknowns thrown in. In any case (as you will…
dgmacarthur | January 13, 2009Following the dramatic appearance of the field of personal genomics just over a year ago the major players in the field have worked hard to distinguish themselves from their competition: 23andMe has emphasised the intellectual joy of learning about genetics, and also attempted to actively engage its customers in the company's research projects; deCODEme has leaned heavily on the impressive academic credentials of its parent company, deCODE Genetics; Navigenics has committed itself utterly to an image of sober, responsible reflection on the medical information present in its customers' genomes…