SNP2GO: functional analysis of genome-wide association studies.

Details

Serval ID
serval:BIB_B612A6BBD927
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
SNP2GO: functional analysis of genome-wide association studies.
Journal
Genetics
Author(s)
Szkiba D., Kapun M., von Haeseler A., Gallach M.
ISSN
1943-2631 (Electronic)
ISSN-L
0016-6731
Publication state
Published
Issued date
2014
Volume
197
Number
1
Pages
285-289
Language
english
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
Pubmed
Web of science
Open Access
Yes
Create date
08/04/2014 20:45
Last modification date
20/08/2019 15:24
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