LIMS invites you to an Evening on Statistical Genetics

5:00pm – 5:45pm: Professor Peter Donnelly [ University of Oxford ]

Although there had been extensive research for many years, until about 18 months ago there were only a handful of genetic variants reliably confirmed as affecting susceptibility to common human diseases. The advent of high-throughput genotyping chips, and suitably-powered large studies, has led to an explosion of findings in this area, and around 100 loci harbouring such variants are now known across 20 or 30 diseases. The talk will describe the largest study to date, the Welcome Trust Case Control Consortium, which is responsible for many of the novel findings, and describe several of the substantive statistical challenges faced within these projects.

5:45pm – 6:15pm: Break for Refreshments

6:15pm – 7:00pm: “Large-scale structural variation in the Welcome Trust Case-Control Consortium (WTCCC)” – Professor David Clayton [University of Cambridge]

The WTCCC study was made possible by advances in large scale typing of single nucleotide polymorphisms (SNPs): sites in the human genome where there is variation in one letter of the genetic code. While this study has been in progress there has been increasing interest in larger scale variation in the genome in which relatively large sections of chromosomes are deleted, duplicated or even inverted. Rather surprisingly, such variation does not always have catastrophic results and it is emerging that it is more common than previously thought. Serendipitously it turns out to be possible to study such variation using the same gene chips used for typing SNPs. This talk will outline some of the methodological problems we have encountered in attempting to study large-scale variation in the WTCCC.