Resources for Genetic Variation Studies

The rapid growth of genome-wide diversity databases, as well as ongoing large-scale resequencing projects targeting genes and other functional components of our genome, provide valuable resources of natural variation at the DNA sequence level. In this review, we briefly summarize the wealth of data on DNA polymorphisms in humans, the distribution of this diversity in the genome as well as among individuals, and the consequence of recombination on its organization. These data provide a set of powerful tools that can be used to better understand inherited phenotypic variation in humans. We discuss the implications for the design of studies investigating correlations between genotypes and phenotypes, both at the fundamental level of genome function and regulation, and for the mapping of disease genes.