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Cell Cycle. 2010 Jan 15;9(2):256-9. Epub 2010 Jan 23.

A systematic approach to understand the functional consequences of non-protein coding risk regions.

Author information

1
Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. coetzee@usc.edu

Abstract

A primary goal of genetic association studies is to elucidate genes and novel biological mechanisms involved in disease. Recently, genome-wide association studies have identified many common genetic variants that are significantly associated with complex diseases such as cancer. In contrast to Mendelian disorders, a sizable fraction of the variants lies outside known protein-coding regions; therefore, understanding their biological consequences presents a major challenge in human genetics. Here we describe an integrated framework to allow non-protein coding loci to be annotated with respect to regulatory functions. This will facilitate identification of target genes as well as prioritize variants for functional testing.

PMID:
20023379
PMCID:
PMC3319348
DOI:
10.4161/cc.9.2.10419
[Indexed for MEDLINE]
Free PMC Article
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