Human genetic variation and its contribution to complex traits

Abstract

The last few years have seen extensive efforts to catalogue human genetic variation and elucidate its relationship to phenotypes, especially disease. Important challenges lie ahead in this area, particularly in relation to the contribution of rare and copy number variants. The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.