From Population to Individual: Identifying Genetic Contributions to Complex Disease

Malia Fullerton, Pennsylvania State University

Now that the complete human genome sequence is available, attention has turned in earnest to the dissection of the genetic basis of complex disease, with the aim of identifying risk variants of individual significance and effect. Thus far, however, complex trait variation has been much harder to reliably locate in families, and so new population-based approaches have been proposed instead. The nature of these approaches, their underlying assumptions (some shared, some contested), as well as their likely success in the face of the considerable genotypic and etiological heterogeneity likely to characterize much complex disease, will be discussed.