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Science 306 (5696): 647-650

Copyright © 2004 by the American Association for the Advancement of Science

Cis-Acting Regulatory Variation in the Human Genome

Tomi Pastinen, and Thomas J. Hudson*

Abstract: The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.

McGill University and Genome Quebec Innovation Centre, 740 Drive Penfield Avenue, Montreal, Quebec H3A 1A4, Canada.

* To whom correspondence should be addressed. E-mail: tom.hudson{at}

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Cis-Acting Regulatory Variation in the Human Genome.
T. Pastinen and T. J. Hudson (2004)
Science 306, 647-650
   Abstract »    Full Text »    PDF »

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