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Cis-Acting Regulatory Variation in the Human Genome
Tomi Pastinen, and
Thomas J. Hudson*
Abstract:
The systematic screening of the human genome for genetic variantsthat affect gene regulation should advance our fundamental understandingof phenotypic diversity and lead to the identification of allelesthat modify disease risk. There are several challenges in localizingregulatory polymorphisms, including the wide spectrum of cis-actingregulatory mechanisms, the inconsistent effects of regulatoryvariants in different tissues, and the difficulty in isolatingthe causal variants that are in linkage disequilibrium withmany other variants. We discuss the current state of knowledgeand technologies used for mapping and characterizing geneticvariation 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}mcgill.ca
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