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Cell. 2010 Apr 16;141(2):210-7. doi: 10.1016/j.cell.2010.03.032.

Genetic heterogeneity in human disease.

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1
Department of Psychiatry, University of Washington, Seattle, WA 98195-7720, USA. drjack@uw.edu

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.

PMID:
20403315
DOI:
10.1016/j.cell.2010.03.032
[Indexed for MEDLINE]
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