2024
13. AmpliconSuite: Analyzing focal amplifications in cancer genomes
Luebeck J, Huang E, Dameracharla B, Kim F, Liefeld T, Ahuja R, Prasad D, Prasad G, Kim S, Kim H, Bailey P, Verhaak R, Deshpande V, Reich M, Mischel P, Mesirov J, Bafna V. 13. AmpliconSuite: Analyzing focal amplifications in cancer genomes. Cancer Genetics 2024, 286: s5. DOI: 10.1016/j.cancergen.2024.08.015.Peer-Reviewed Original ResearchWhole-genome sequencingWhole-genome sequencing dataFocal amplificationCancer genomesStructural variationsAmplification of oncogenesExtrachromosomal DNACopy numberEcDNAGenomeOncogene amplificationAmpliconArchitectCancer progressionAmplificationAmplification typeTumor samplesBiocondaNextflowPCAWGGenePatternRobust identificationDNACCLESequenceOncogene
2023
EPCO-09. CHARACTERIZING THE GBM CELLULAR LANDSCAPE BY LARGE-SCALE SINGLE-NUCLEUS RNA-SEQUENCING
Spitzer A, Nomura M, Garofano L, Johnson K, Nehar-Belaid D, Oh Y, Anderson K, Najac R, Bussema L, Varn F, D’Angelo F, Chowdhury T, Migliozzi S, Park J, Ermini L, Golebiewska A, Niclou S, Das S, Paek S, Moon H, Mathon B, Di Stefano A, Bielle F, Laurenge A, Sanson M, Tanaka S, Saito N, Keir S, Ashley D, Huse J, Yung W, Lasorella A, Verhaak R, Iavarone A, Tirosh I, Suva M. EPCO-09. CHARACTERIZING THE GBM CELLULAR LANDSCAPE BY LARGE-SCALE SINGLE-NUCLEUS RNA-SEQUENCING. Neuro-Oncology 2023, 25: v125-v125. PMCID: PMC10639394, DOI: 10.1093/neuonc/noad179.0473.Peer-Reviewed Original ResearchCellular statesSingle-cell RNA sequencing technologySpecific cellular statesCell typesDNA sequence dataRNA sequencing technologyMalignant cell statesWhole-genome sequencing dataNucleus RNA sequencingRNA sequencing datasetsFunctional enrichment analysisScRNA-seq datasetsScRNA-seq studiesGBM tumor samplesCertain genetic eventsHallmark of glioblastomaCellular landscapeRNA sequencingCell statesEnrichment analysisBaseline expression profilesSequencing dataExpression profilesGlial developmentIntra-tumor heterogeneity
2017
TumorFusions: an integrative resource for cancer-associated transcript fusions
Hu X, Wang Q, Tang M, Barthel F, Amin S, Yoshihara K, Lang F, Martinez-Ledesma E, Lee S, Zheng S, Verhaak R. TumorFusions: an integrative resource for cancer-associated transcript fusions. Nucleic Acids Research 2017, 46: gkx1018-. PMID: 29099951, PMCID: PMC5753333, DOI: 10.1093/nar/gkx1018.Peer-Reviewed Original ResearchConceptsTranscript fusionsGene fusionsWhole-genome sequencing dataSomatic DNA rearrangementsTranscript-level expressionGenome sequencing dataGene annotationCopy number levelsCancer samplesCancer Genome AtlasDNA rearrangementsUniform pipelineFunctional fusionSequencing dataIntegrative resourceLevel expressionPartner genesGenome AtlasChromosomal alterationsMutational patternsCancer typesFusion transcriptsNon-neoplastic samplesMolecular aberrationsNumber levels