Genetic Heterogeneity in Human Disease
Cell, Volume 141, Issue 2, 210-217, 16 April 2010
Copyright © 2010 Elsevier Inc. All rights reserved.
10.1016/j.cell.2010.03.032
Authors
Jon McClellan, Mary-Claire King
Summary
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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