Population genetics of rare variants and complex diseases.

ABSTRACT:

Objectives

Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non-neutral evolutionary signatures. Uncovering the evolutionary history of all variants is therefore of intrinsic interest for complex disease research. However, doing so necessitates the simultaneous elucidation of the targets of natural selection and population-specific demographic history.

Methods

Here we characterize the action of natural selection operating across complex disease categories, and use population genetic simulations to evaluate the expected patterns of genetic varia

SUBMITTER: Maher MC 

PROVIDER: S-EPMC3698246 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature