2015
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas
Krauthammer M, Kong Y, Bacchiocchi A, Evans P, Pornputtapong N, Wu C, McCusker JP, Ma S, Cheng E, Straub R, Serin M, Bosenberg M, Ariyan S, Narayan D, Sznol M, Kluger HM, Mane S, Schlessinger J, Lifton RP, Halaban R. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. Nature Genetics 2015, 47: 996-1002. PMID: 26214590, PMCID: PMC4916843, DOI: 10.1038/ng.3361.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsBenzimidazolesDNA Mutational AnalysisDrug Resistance, NeoplasmExomeGenetic Association StudiesGenetic Predisposition to DiseaseHumansInhibitory Concentration 50Kaplan-Meier EstimateLoss of HeterozygosityMaleMelanomaMutation, MissenseNeurofibromin 1Ras ProteinsSequence Analysis, RNASkin NeoplasmsSunlightTumor Cells, Cultured
2012
A semantic web framework to integrate cancer omics data with biological knowledge
Holford ME, McCusker JP, Cheung KH, Krauthammer M. A semantic web framework to integrate cancer omics data with biological knowledge. BMC Bioinformatics 2012, 13: s10. PMID: 22373303, PMCID: PMC3471346, DOI: 10.1186/1471-2105-13-s1-s10.Peer-Reviewed Original ResearchConceptsBiological knowledgeOmics dataSemantic modelFundamental biological knowledgeGene ontology dataCancer omics dataEpigenomic dataRegulatory networksSemantic Web technologiesTranscription factorsSemantic Web frameworkUnified data sourceGene promoterDemethylating agentApoptosis pathwayAnti-cancer therapySemantic WebSPARQL endpointsWeb technologiesRDF triplesWeb frameworkOntology dataData warehouseUniform interfaceReasoning tools