rare variants

Genetic Future

Category archives for rare variants

Complete 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…

Harvard 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:

The 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…

The 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…

Nejentsev 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…

I’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…

Well, 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…

Following 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…