A systematic approach to understand the functional consequences of non-protein coding risk regions.
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.
Coetzee
Gerhard A
GA
Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. coetzee@usc.edu
Jia
Li
L
Frenkel
Baruch
B
Henderson
Brian E
BE
Tanay
Amos
A
Haiman
Christopher A
CA
Freedman
Matthew L
ML
D020413:3' Untranslated Regions; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
D020413:3' Untranslated Regions