Heterogeneidade genética na doença humana

sexta-feira, novembro 12, 2010

Genetic Heterogeneity in Human Disease 

Cell, Volume 141, Issue 2, 210-217, 16 April 2010
Copyright © 2010 Elsevier Inc. All rights reserved. 



Jon McClellan, Mary-Claire King 


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.