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paleoanthropology, genetics and evolution

Genetic heterogeneity in human disease.

Mon, 2012-01-16 20:33 -- John Hawks
TitleGenetic heterogeneity in human disease.
Publication TypeJournal Article
Year of Publication2010
AuthorsMcClellan, J, King, M-C
JournalCell
Volume141
Issue2
Pagination210-7
Date Published2010 Apr 16
ISSN1097-4172
KeywordsCDCV, fitness effects, heritability, missing heritability, mutation, schizophrenia
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.

DOI10.1016/j.cell.2010.03.032
Alternate JournalCell
Citation KeyMcClellan:heterogeneity:2010
PubMed ID20403315

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