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Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

Publication ,  Journal Article
McCarthy, MI; Abecasis, GR; Cardon, LR; Goldstein, DB; Little, J; Ioannidis, JPA; Hirschhorn, JN
Published in: Nature reviews. Genetics
May 2008

The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.

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Published In

Nature reviews. Genetics

DOI

EISSN

1471-0064

ISSN

1471-0056

Publication Date

May 2008

Volume

9

Issue

5

Start / End Page

356 / 369

Related Subject Headings

  • Quantitative Trait, Heritable
  • Quantitative Trait Loci
  • Humans
  • Genome, Human
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Diseases, Inborn
  • Developmental Biology
  • Animals
  • Alleles
 

Citation

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McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews. Genetics, 9(5), 356–369. https://doi.org/10.1038/nrg2344
McCarthy, Mark I., Gonçalo R. Abecasis, Lon R. Cardon, David B. Goldstein, Julian Little, John P. A. Ioannidis, and Joel N. Hirschhorn. “Genome-wide association studies for complex traits: consensus, uncertainty and challenges.Nature Reviews. Genetics 9, no. 5 (May 2008): 356–69. https://doi.org/10.1038/nrg2344.
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature reviews Genetics. 2008 May;9(5):356–69.
McCarthy, Mark I., et al. “Genome-wide association studies for complex traits: consensus, uncertainty and challenges.Nature Reviews. Genetics, vol. 9, no. 5, May 2008, pp. 356–69. Epmc, doi:10.1038/nrg2344.
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature reviews Genetics. 2008 May;9(5):356–369.

Published In

Nature reviews. Genetics

DOI

EISSN

1471-0064

ISSN

1471-0056

Publication Date

May 2008

Volume

9

Issue

5

Start / End Page

356 / 369

Related Subject Headings

  • Quantitative Trait, Heritable
  • Quantitative Trait Loci
  • Humans
  • Genome, Human
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Diseases, Inborn
  • Developmental Biology
  • Animals
  • Alleles