Journal article

Human genetic variation and its contribution to complex traits

Frazer K, Murray S, Schork N, Topol E ...see all

Nature Reviews Genetics, vol. 10, issue 4 (2009) pp. 241-51

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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.

Author-supplied keywords

  • Base Sequence
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome
  • Genome-Wide Association Study
  • Genotype
  • Human
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Phenotype
  • Polymorphism
  • Single Nucleotide

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  • KA Kelly a Frazer

  • SS Sarah S Murray

  • Nicholas J NJ Schork

  • EJ Eric J Topol

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