SNPtoGO: characterizing SNPs by enriched GO terms

Bioinformatics. 2008 Jan 1;24(1):146-8. doi: 10.1093/bioinformatics/btm551. Epub 2007 Nov 17.


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 tool presented here hence adds external information, i.e. GeneOntology (GO) terms (Gene Ontology Consortium), to the analysis of SNP data.

Availability: A web interface and source code are offered at

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Chromosome Mapping / methods*
  • DNA Mutational Analysis
  • Databases, Genetic*
  • Gene Expression Profiling / methods*
  • Polymorphism, Single Nucleotide / genetics*
  • Software*
  • User-Computer Interface*