Bioinformatics Advance Access published online on November 17, 2007
Bioinformatics, doi:10.1093/bioinformatics/btm551
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SNPtoGO: Characterising SNPs by Enriched GO Terms
aInstitut für Medizinische Biometrie und Statistik, bInstitut für Neuro- und Bioinformatik, and cMedizinische Klinik II, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany; dMax Planck Institute for Dynamics of Complex Technical Systems, Sandtorstr. 1, 39106 Magdeburg, Germany;
*To whom correspondence should be addressed. Mr. Daniel F.Schwarz, E-mail: schwarz{at}imbs.uni-luebeck.de
| Abstract |
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For the analysis of complex polygenic diseases, one does not expect all patients to share the same disease-associated alleles. Not even will disease-causing variations be assigned to the identical sets of genes between patients. However, one does expect overlaps in the sets of genes that are involved and even more so in their assigned molecular processes. Furthermore, the assignment of single nucleotide polymorphisms (SNPs) to genes is highly ambiguous for intergenic SNPs. The here presented tool hence adds external information, i.e, GeneOntology (GO) terms (Gene Ontology Consortium, 2006), to the analysis of SNP data.
Availability: A web interface and source code are offered at https://webtools.imbs.uni-luebeck.de/snptogo
Contact: schwarz{at}imbs.uni-luebeck.de, moeller{at}inb.uni-luebeck.de
Associate Editor: Prof. John Quackenbush
Received on May 31, 2007; revised on October 12, 2007; accepted on October 31, 2007