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. © 2009 Macmillan Publishers Limited. All rights reserved.
CITATION STYLE
Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009, April). Human genetic variation and its contribution to complex traits. Nature Reviews Genetics. https://doi.org/10.1038/nrg2554
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