Common disease-common variant hypothesis

In response to the NEJM issue on personal genomics and the CDCV hypothesis, p-ter offers a proposal: Let's follow Goldstein's back-of-the-envelope calculations: assume there are ~100K polymorphisms (assuming Goldstein isn't making the mistake I attribute to him, this includes polymorphisms both common and rare) that contribute to human height, that we've found the ones that account for the largest fractions of the variance, and that these fractions of variance follow an exponential distribution. Now, assume you have assembled a cohort of 5000 individuals and done a genome-wide association…

The New England Journal of Medicine has a series of articles up on the impact of new genomic techniques on medicine, specifically in the domain of pinpointing genetic markers which are correlated with increased risk of a particular disease. David Goldstein has a skeptical take up on the future returns of genomewide association studies, while Joel Hirschhorn is more hopeful. There is another review which takes a middle path, emphasizing the relatively marginal predictive power of many of the risk alleles, but suggesting that techniques and results are bound to improve. Probably the most…

Science News has an interesting piece up, Shared Differences: The architecture of our genomes is anything but basic. The main focus is on genetic variation, the possibility that there might be important information in copy number variance, and that the common disease-common variant hypothesis is dead. At least for complex traits that we're interested in like schizophrenia. If any of this is unfamiliar or confusing, I recommend the article, it even has references to the primary literature that you can follow up on.