Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2010 Apr 16;141(2):210-7.
doi: 10.1016/j.cell.2010.03.032.

Genetic heterogeneity in human disease

Jon McClellan  1 , Mary-Claire King
Affiliations
Free article

Genetic heterogeneity in human disease

Jon McClellan et al. Cell. .
Free article

Abstract

Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.

PubMed Disclaimer

Comment in

  • Successes of genome-wide association studies.
    Klein RJ, Xu X, Mukherjee S, Willis J, Hayes J. Klein RJ, et al. Cell. 2010 Aug 6;142(3):350-1; author reply 353-5. doi: 10.1016/j.cell.2010.07.026. Cell. 2010. PMID: 20691890 No abstract available.
  • Strategies for genetic studies of complex diseases.
    Wang K, Bucan M, Grant SF, Schellenberg G, Hakonarson H. Wang K, et al. Cell. 2010 Aug 6;142(3):351-3; author reply 353-5. doi: 10.1016/j.cell.2010.07.025. Cell. 2010. PMID: 20691891 No abstract available.