Human genetic variation and its contribution to complex traits.
- ISSN: 1471-0056
- ISBN: 1471-0064 (Electronic)\r1471-0064 (Linking)
- DOI: 10.1038/nrg2554
- PubMed: 19293820
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.