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Genetic Heterogeneity in Human Disease

by: Jon McClellan, Mary-Claire King
Cell, Vol. 141, No. 2. (16 April 2010), pp. 210-217, doi:10.1016/j.cell.2010.03.032  Key: citeulike:7028847

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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.


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