Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms.

ABSTRACT: One of the formative goals of genetics research is to understand how genetic variation leads to phenotypic differences and human disease. Genome-wide association studies (GWASs) bring us closer to this goal by linking variation with disease faster than ever before. Despite this, GWASs alone are unable to pinpoint disease-causing single nucleotide polymorphisms (SNPs). Noncoding SNPs, which represent the majority of GWAS SNPs, present a particular challenge. To address this challenge, an array of computational tools designed to prioritize and predict the function of noncoding GWAS SNPs have been developed. However, fewer than 40% of GWAS publications from 2015 utilized these tools. We discuss several leading methods for annotating noncoding variants and how they can be integrated into resea

SUBMITTER: Nishizaki SS 

PROVIDER: S-EPMC5553318 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature