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Genomics-based approaches to understanding mechanistic alterations of spliceosome function in disease states
Organization UNIVERSITY OF ROCHESTERLocation ROCHESTER, UNITED STATESPosted 1 Mar 2021Deadline 31 Jan 2026 ⚠️
NIHUS FederalResearch GrantFY20253' Splice SiteAffectAllelesAllelomorphsAmino AcidsAntigenic DeterminantsAuxinsBindingBinding DeterminantsBiologicalBiologyCRISPR activationCRISPR activatorCRISPR based activationCRISPR gene activationCRISPR transcription activationCRISPR transcriptional activationCRISPR-Cas-9-mediated gene activationCRISPR-based gene activationCRISPR-dCAS9 ActivatorCRISPR-mediated transcriptional activationCRISPR/CAS9 activationCRISPR/CAS9 gene activationCRISPR/dCas9 activationCRISPR/dCas9-based transcriptional activationCRISPRaCancersCatalysisCausalityCell BodyCell LineCellLineCellsClassificationCodeCoding SystemCopy Number PolymorphismDNA AlterationDNA HelicasesDNA Sequence AlterationDNA Unwinding ProteinsDNA mutationDNA unwinding enzymeDataDeletion MutationDependenceDevelopmentDiseaseDisorderDysfunctionEpitopesEtiologyEventExhibitsExonsFunctional disorderGene AlterationGene AmplificationGene ExpressionGene MutationGene SplicingGene TranscriptionGenesGeneticGenetic AlterationGenetic ChangeGenetic DiseasesGenetic ScreeningGenetic TranscriptionGenetic defectGenetic mutationGenomicsGerm LinesHeterozygoteHumanIndividualIntervening SequencesIntronsMachine LearningMalignant NeoplasmsMalignant TumorMechanicsMediatingMethodsMissense MutationModelingModern ManMolecular InteractionMotorMutateMutationNormal CellOutcomePathway interactionsPatternPhenocopyPhysiopathologyPositionPositioning AttributeProceduresProtein SplicingProteinsRNA BindingRNA ExpressionRNA HelicaseRNA SeqRNA SplicingRNA boundRNA sequencingRNAseqRoleSequence AlterationSeriesSiteSpecificitySplice Acceptor SitesSpliced GenesSpliceosomesSplicingStrains Cell LinesStructureSyndromeSystemSystematicsTechniquesTestingTranscriptionVariantVariationactivating CRISPR technologyaminoacidbiologiccausal allelecausal genecausal mutationcausal variantcausationcausative mutationcausative variantcell typecofactorcopy number variantcopy number variationcultured cell linedeep learningdeep learning based neural networkdeep learning methoddeep learning neural networkdeep learning strategydeep neural netdeep neural networkdevelopmentaldisease causationexperimentexperimental researchexperimental studyexperimentsgene defectgene expression variationgenetic conditiongenetic disordergenome mutationgenome scalegenome-widegenomewidegenomic alterationgenomic datagenomic datasetglobal gene expressionglobal transcription profilehelicaseheterozygosityhuman diseaseinsightmachine based learningmalignancymechanicmechanicalmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmutantmutant allelenatural gene amplificationneoplasm/cancernew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapypatched proteinpathophysiologypathwayrecombinaserecombinase-mediated cassette exchangerecombination-mediated cassette exchangerecruitresponsesocial roletooltranscriptometranscriptome sequencingtranscriptomic sequencingtumorvirtual
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Description preview
Splicing factors are frequently altered by mutations and copy-number changes both in cancer and in
germline genetic diseases resulting in multi-system developmental syndromes. Despite the fact that virtually all
genes in humans undergo splicing, spliceosomal genetic alterations tend to exhibit surprisingly specific effects
on subsets of splicing…
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