On the identification of potential regulatory variants within genome wide association candidate SNP sets.

ABSTRACT:

Background

Genome wide association studies (GWAS) are a population-scale approach to the identification of segments of the genome in which genetic variations may contribute to disease risk. Current methods focus on the discovery of single nucleotide polymorphisms (SNPs) associated with disease traits. As there are many SNPs within identified risk loci, and the majority of these are situated within non-coding regions, a key challenge is to identify and prioritize variants affecting regulatory sequences that are likely to contribute to the phenotype assessed.

Methods

We focused investigation on SNPs within lung and breast cancer GWAS loci that reached genome-wide significance for potential roles in gene regulation with a specific focus on SNPs likely to disrupt transcription f

SUBMITTER: Chen CY 

PROVIDER: S-EPMC4066296 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature