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

 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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Pages
256 - 259
doi
10.4161/cc.9.2.10419
Type
Perspective
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A systematic approach to understand the functional consequences of non-protein coding risk regions