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, 141 (2), 210-7

Genetic Heterogeneity in Human Disease


Genetic Heterogeneity in Human Disease

Jon McClellan et al. Cell.


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.

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.

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