2013
Adjusting for Background Mutation Frequency Biases Improves the Identification of Cancer Driver Genes
Evans P, Avey S, Kong Y, Krauthammer M. Adjusting for Background Mutation Frequency Biases Improves the Identification of Cancer Driver Genes. IEEE Transactions On NanoBioscience 2013, 12: 150-157. PMID: 23694700, PMCID: PMC3989533, DOI: 10.1109/tnb.2013.2263391.Peer-Reviewed Original ResearchConceptsMore non-synonymous mutationsMutation frequencyTumor sequencing projectsGene-specific mannerCancer driver genesNon-synonymous mutationsSynonymous mutation ratioMutation biasSequencing projectsBackground mutation frequencyGene expressionDriver genesGenesTumor developmentMutation burdenMutation ratioHigher non-synonymous mutation burdenMutationsMutation countsExpressionBackground frequencyFrequency biasesIdentification
2012
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker J, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics 2012, 44: 1006-1014. PMID: 22842228, PMCID: PMC3432702, DOI: 10.1038/ng.2359.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCase-Control StudiesDNA Mutational AnalysisExomeFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMelanomaMiddle AgedModels, MolecularMutationProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Rac1 GTP-Binding ProteinSequence Analysis, DNASkin NeoplasmsUveal NeoplasmsConceptsSun-exposed melanomas