Bioinformatics · 2007 · 23 citations · 15 references
Life SciencesBioinformaticsGeneticsGenomicsHuman GeneticsMedical GeneticsGene Set Enrichment AnalysisGenetic DisordersGenotype-phenotype Association AnalysisPolygenic TraitsDisease Susceptibility AllelesGene Ontology AnalysisGene Ontology AnnotationGene Ontology AssignmentSingle-nucleotide Polymorphisms
UNLABELLED: 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 https://webtools.imbs.uni-luebeck.de/snptogo
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R: A Language and Environment for Statistical Computing
R Core Team · 2000 · 353K citations · Full text
Natural Sciences, Computer Science, Statistical Computing +10
The Universal Protein Resource (UniProt)
Amos Bairoch · Nucleic Acids Research · 2004 · 3.8K citations · Full text