title: 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 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.
authors.affiliation: Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. coetzee@usc.edu
authors.forename: Gerhard A
authors.initials: GA
authors.lastname: Coetzee
authors.forename: Li
authors.initials: L
authors.lastname: Jia
authors.forename: Baruch
authors.initials: B
authors.lastname: Frenkel
authors.forename: Brian E
authors.initials: BE
authors.lastname: Henderson
authors.forename: Amos
authors.initials: A
authors.lastname: Tanay
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Haiman
authors.forename: Matthew L
authors.initials: ML
authors.lastname: Freedman
mesh_terms: 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
chemical_list: D020413:3' Untranslated Regions