Format

Send to

Choose Destination
See comment in PubMed Commons below
Genetics. 2014 May;197(1):285-9. doi: 10.1534/genetics.113.160341. Epub 2014 Feb 21.

SNP2GO: functional analysis of genome-wide association studies.

Author information

  • 1Center for Integrative Bioinformatics Vienna, Max F. Perutz Laboratories, University of Vienna and Medical University of Vienna, A-1030 Vienna, Austria.

Abstract

Genome-wide association studies (GWAS) are designed to identify the portion of single-nucleotide polymorphisms (SNPs) in genome sequences associated with a complex trait. Strategies based on the gene list enrichment concept are currently applied for the functional analysis of GWAS, according to which a significant overrepresentation of candidate genes associated with a biological pathway is used as a proxy to infer overrepresentation of candidate SNPs in the pathway. Here we show that such inference is not always valid and introduce the program SNP2GO, which implements a new method to properly test for the overrepresentation of candidate SNPs in biological pathways.

KEYWORDS:

GWAS; Gene Ontology; SNP; linkage disequilibrium

PMID:
24561481
PMCID:
PMC4012486
DOI:
10.1534/genetics.113.160341
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Support Center