2022
Prognostic mutational subtyping in de novo diffuse large B-cell lymphoma
Kim E, Jiang Y, Xu T, Bazeos A, Knapp A, Bolen C, Humphrey K, Nielsen T, Penuel E, Paulson J. Prognostic mutational subtyping in de novo diffuse large B-cell lymphoma. BMC Cancer 2022, 22: 231. PMID: 35236331, PMCID: PMC8892802, DOI: 10.1186/s12885-022-09237-5.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntineoplastic Combined Chemotherapy ProtocolsBridged Bicyclo Compounds, HeterocyclicClinical Trials, Phase II as TopicClinical Trials, Phase III as TopicEnhancer of Zeste Homolog 2 ProteinExome SequencingFemaleHumansLymphoma, Large B-Cell, DiffuseMaleMiddle AgedMutationPrognosisProto-Oncogene Proteins c-bcl-2RNA-SeqSulfonamidesTreatment OutcomeConceptsSequence dataWhole-exome sequencing dataExome-sequencing dataTargeted sequencing platformsExome sequencing dataTargeted sequencing dataBackgroundDiffuse large B-cell lymphomaLarge B-cell lymphomaSequencing platformsRNA-seqDe novo DLBCLImproved overall survivalTarget sequenceB-cell lymphomaVenetoclax therapyMutation subtypesPrognostic subsetsMutationsOverall survivalMolecular subsetsSubset distributionMutation groupSurvival outcomesMutation profilesClinical associations
2017
Tissue-aware RNA-Seq processing and normalization for heterogeneous and sparse data
Paulson J, Chen C, Lopes-Ramos C, Kuijjer M, Platig J, Sonawane A, Fagny M, Glass K, Quackenbush J. Tissue-aware RNA-Seq processing and normalization for heterogeneous and sparse data. BMC Bioinformatics 2017, 18: 437. PMID: 28974199, PMCID: PMC5627434, DOI: 10.1186/s12859-017-1847-x.Peer-Reviewed Original ResearchConceptsRNA-seq data setsRNA-seqGenotype-Tissue ExpressionRNA-seq processingGenome-wide transcriptional profilingRNA-seq studiesRNA-seq dataGene filteringDownstream analysisRNA sequencingTranscriptional profilesDiverse tissuesAnalytical pipelineR packageQuality controlSignificant analytical challengeSoftware pipelineGenesRNAMulti-group studyNormalization stepAnalytical challengesResultsWeTissueExpressionRegulatory network changes between cell lines and their tissues of origin
Lopes-Ramos C, Paulson J, Chen C, Kuijjer M, Fagny M, Platig J, Sonawane A, DeMeo D, Quackenbush J, Glass K. Regulatory network changes between cell lines and their tissues of origin. BMC Genomics 2017, 18: 723. PMID: 28899340, PMCID: PMC5596945, DOI: 10.1186/s12864-017-4111-x.Peer-Reviewed Original ResearchConceptsLymphoblastoid cell linesCell linesTranscription factor (TFChIP-seq dataRegulatory network changesRNA-seq dataTissue of originRegulatory network analysisCell cycle genesPrimary tissuesGene expression analysisEpstein-Barr virus-transformed lymphoblastoid cell linesChIP-seqVirus-transformed lymphoblastoid cell linesTF-targetRNA-seqGTEx projectTF regulationCycle genesTranscriptomic differencesBackgroundCell linesTranscript levelsExpression analysisFibroblast cell lineNetwork analysis