genome-wide association studies

Genetic Future

Category archives for genome-wide association studies

Olivia Judson’s blog has a guest post by Aaron Hirsh that got me thinking about a topic that will be familiar to most scientists: the transition of research towards Big Science. Big Science basically includes any project involving a large consortium of research groups working together on a tightly-defined problem, usually with a very specific…

Nature has a list of the top news stories of 2008, and “Personal genomics goes mainstream” comes up second: In January, an international consortium announced the launch of the 1,000 Genomes Project, which aims to provide a catalogue of human genetic variation. In October, the Personal Genome Project, which hopes to sequence and publish the…

Nature Genetics has just released six advance online manuscripts on the genetic architecture of complex metabolic traits. The amount of data in the manuscripts is overwhelming, so this post is really just a first impression; I suspect I’ll have more to say once I’ve had time to dig into the juicy marrow of the supplementary…

One of the major challenges of the personal genomic era will be knowing exactly which (if any) of the millions of genetic variants present in your genome are likely to actually have an impact on your health. Such predictions are particularly problematic for regulatory variants – genetic changes that alter the expression levels of genes,…

Baldness genes: one old, one new

From a geneticist’s point of view, male pattern baldness – also known as androgenic alopecia – is a tempting target. Baldness is common in the general population, with a prevalence that increases sharply with age (as a rule of thumb, a male’s percentage risk of baldness is approximately equal to his age, e.g. 50% at…

The genome-wide association study has been the technique du jour in human genetics for much of the last two years. It’s a pure brute force approach, surveying up to a million sites of common variation throughout the genomes of thousands of people at a time, some of whom suffer from a particular disease, and some…

Why do genome-wide scans fail?

The successes of genome-wide association studies (GWAS) in identifying genetic risk factors for common diseases have been heavily publicised in the mainstream media – barely a week goes by these days that we don’t hear about another genome scan that has identified new risk genes for diabetes, lupus, cardiac disease, or any of the other…