2020
NIMBus: a negative binomial regression based Integrative Method for mutation Burden Analysis
Zhang J, Liu J, McGillivray P, Yi C, Lochovsky L, Lee D, Gerstein M. NIMBus: a negative binomial regression based Integrative Method for mutation Burden Analysis. BMC Bioinformatics 2020, 21: 474. PMID: 33092526, PMCID: PMC7580035, DOI: 10.1186/s12859-020-03758-1.Peer-Reviewed Original ResearchConceptsDNase I hypersensitive sitesMutation rate heterogeneityDNA elementsCancer whole genome sequencesMutational hotspotsMutation burden analysisFunctional genomics dataNon-coding regionsGene regulatory networksWhole Genomes (PCAWG) projectWhole genome sequencesBackground mutation rateBurden analysisChromatin organizationReplication timingGenome sequenceRegulatory networksTranscription factorsHypersensitive sitesGenomic featuresRate heterogeneityGenome ProjectGenomic dataIntegrative methodGamma-Poisson mixture model
2019
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications 2019, 10: 4722. PMID: 31624253, PMCID: PMC6797711, DOI: 10.1038/s41467-019-12582-y.Peer-Reviewed Original ResearchConceptsChromatin-modifying genesCilia-related genesGene classesDe novo variantsDistinct gene functionsDamaging de novo variantsBackground mutation rateGene burden analysisNovo variantsGene functionGenetic architectureRecessive formPediatric Cardiac Genomics ConsortiumSporadic congenital heart diseaseMode of inheritancePhenotypic landscapeGene pathwaysDisease genesGenomics ConsortiumMutation rateGenesRecessive genotypeDe novoCompound heterozygous genotypeDe novo forms
2013
Low-copy piggyBac transposon mutagenesis in mice identifies genes driving melanoma
Ni TK, Landrette SF, Bjornson RD, Bosenberg MW, Xu T. Low-copy piggyBac transposon mutagenesis in mice identifies genes driving melanoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: e3640-e3649. PMID: 24003131, PMCID: PMC3780872, DOI: 10.1073/pnas.1314435110.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternDNA PrimersDNA Transposable ElementsGene Expression Regulation, NeoplasticGenetic TestingHEK293 CellsHumansImmunohistochemistryMAP Kinase Kinase Kinase 1MelanomaMiceMice, TransgenicMutagenesis, InsertionalReverse Transcriptase Polymerase Chain ReactionSignal TransductionSpecies SpecificityConceptsCancer-driving genesMitogen-activated protein kinase kinase kinase 1Membrane associated guanylate kinaseProtein kinase kinase kinase 1Kinase kinase kinase 1Protein tyrosine phosphataseTransposon mutagenesis approachKinase kinase 1Transposon mutagenesis screenHuman melanomaBackground mutation rateMelanoma driver genesUndescribed genesIdentifies genesMutagenesis screenPDZ domainGuanylate kinaseTyrosine phosphataseTransposon mutagenesisCellular transformationMutagenesis approachKinase 1Mutation rateERK signalingDriver genes
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