Inferring clonal composition from multiple tumor biopsies
Manica M, Kim H, Mathis R, Chouvarine P, Rutishauser D, De Vargas Roditi L, Szalai B, Wagner U, Oehl K, Saba K, Pati A, Saez-Rodriguez J, Roy A, Parsons D, Wild P, Martínez M, Sumazin P. Inferring clonal composition from multiple tumor biopsies. Npj Systems Biology And Applications 2020, 6: 27. PMID: 32843649, PMCID: PMC7447821, DOI: 10.1038/s41540-020-00147-5.Peer-Reviewed Original ResearchConceptsCopy number alterationsEffects of copy number alterationsGenetic instabilityClonal evolutionClonal compositionDrug-resistant prostate cancerAcquisition of mutationsDrug-resistant subclonesPhylogeny reconstructionTumor phylogeniesRelative abundanceTumor biopsiesWilms tumorProstate cancerGenetic alterationsGenetic profileMultiple biopsiesTumor profilingHepatocellular carcinomaPhylogenyTumorSubclonesAnalysis of simulated dataMutationsBiopsyPan-cancer analysis of somatic mutations and epigenetic alterations in insulated neighbourhood boundaries
Pinoli P, Stamoulakatou E, Nguyen A, Martínez M, Ceri S. Pan-cancer analysis of somatic mutations and epigenetic alterations in insulated neighbourhood boundaries. PLOS ONE 2020, 15: e0227180. PMID: 31945090, PMCID: PMC6964824, DOI: 10.1371/journal.pone.0227180.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsBinding SitesCCCTC-Binding FactorChromosomes, Human, Pair 11DNA Copy Number VariationsDNA MethylationDNA Mutational AnalysisEpigenesis, GeneticExonsFemaleGene Expression Regulation, NeoplasticGenome, HumanHumansInsulator ElementsMutation RateNeoplasmsPoint MutationPromoter Regions, GeneticConceptsCTCF motifsCopy number alterationsSomatic mutationsAbnormal methylationCTCF binding sitesCopy number alteration eventsAnalysis of somatic mutationsMatched normal samplesCancer typesCTCF bindingOncogene dysregulationMutation enrichmentPan-cancer analysisPositive selectionEpigenetic alterationsIn-boundaryGenomic alterationsMotifMutational signaturesBinding sitesMutationsCTCFPan-cancerCopyNormal samples