Perspective

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

Volume 9, Issue 2   January 15, 2010
Pages 256 - 259
http://dx.doi.org/10.4161/cc.9.2.10419
Authors: Gerhard A. Coetzee, Li Jia, Baruch Frenkel, Brian E. Henderson, Amos Tanay, Christopher A. Haiman and Matthew L. Freedman

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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 mutation-causing 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.

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