RegSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.

ABSTRACT:

Motivation

One of the fundamental questions in genetics study is to identify functional DNA variants that are responsible to a disease or phenotype of interest. Results from large-scale genetics studies, such as genome-wide association studies (GWAS), and the availability of high-throughput sequencing technologies provide opportunities in identifying causal variants. Despite the technical advances, informatics methodologies need to be developed to prioritize thousands of variants for potential causative effects.

Results

We present regSNPs, an informatics strategy that integrates several established bioinformatics tools, for prioritizing regulatory SNPs, i.e. the SNPs in the promoter regions that potentially affect phenotype through changing transcription of downstream genes.

SUBMITTER: Teng M 

PROVIDER: S-EPMC3389767 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature