grant
COPD GWAS Functional Variant Identification in Airway Epithelial Cells using Deep Learning Splicing Models
Organization BRIGHAM AND WOMEN'S HOSPITALLocation BOSTON, UNITED STATESPosted 1 Aug 2024Deadline 31 May 2028
NIHUS FederalResearch GrantFY2025AffectAirAlternate SplicingAlternative RNA SplicingAlternative SplicingBSC-1 Cell Growth InhibitorBayesian MethodBayesian MethodologyBayesian Statistical MethodBayesian approachesBayesian classification methodBayesian classification procedureBayesian posterior distributionBiologicalBiological FunctionBiological ProcessBiologyBloodBlood Reticuloendothelial SystemBody TissuesCIF-BCOPDCartilage-Inducing Factor-BCause of DeathCell BodyCell FunctionCell PhysiologyCell ProcessCellsCellular FunctionCellular PhysiologyCellular ProcessCellular biologyChronic Obstruction Pulmonary DiseaseChronic Obstructive Lung DiseaseChronic Obstructive Pulmonary DiseaseCollectionComplementComplement ProteinsComplexDataDevelopmentDiseaseDisorderDrug TargetingDysfunctionEnvironmental ExposureEpithelial CellsFDA approvedFunctional disorderG-TSFGSC-1GIGWA studyGWASGene ExpressionGene SplicingGene variantGenesGeneticGenetic PredispositionGenetic Predisposition to DiseaseGenetic SusceptibilityGenetic propensityGenome MappingsGenomicsGenotypeGlioblastoma-Derived T-Cell Suppressor FactorGoalsHumanHuman GeneticsIndividualInherited PredispositionInherited SusceptibilityInterdisciplinary ResearchInterdisciplinary StudyInvestigationIsoformsLiquid substanceLungLung ParenchymaLung Respiratory SystemLung TissueLung damageMachine LearningMapsMass Photometry/Spectrum AnalysisMass SpectrometryMass SpectroscopyMass SpectrumMass Spectrum AnalysesMass Spectrum AnalysisMeasurementMethodsModelingModern ManMultidisciplinary CollaborationMultidisciplinary ResearchNetwork AnalysisNon-Polyadenylated RNAPathogenicityPathway AnalysisPathway interactionsPerformancePhenotypePhysiopathologyPlayPolyerginProtein IsoformsProteinsProteomicsQTLQuantitative Trait LociRNARNA Gene ProductsRNA SeqRNA SplicingRNA sequencingRNA-Binding ProteinsRNAseqResearchResearch PriorityResearch ResourcesResourcesRespiratory EpitheliumRibonucleic AcidRiskRoleSamplingScienceShort interfering RNASmall Interfering RNASourceSpliced GenesSplicingStructure of parenchyma of lungStructure of respiratory epitheliumSubcellular ProcessTGF-Beta 1TGF-Beta 2TGF-Beta1TGF-Beta2TGF-b2TGF-β2TGFBTGFB1TGFB1 geneTGFB2TGFB2 geneTechnologyTissue SampleTissuesTrainingTransforming Growth Factor Beta 1Transforming Growth Factor Beta 2Translational ResearchTranslational ScienceVariantVariationWorkairway epitheliumallelic variantbiologiccell biologycell typechronic obstructive pulmonary disordercigarette smokecigarette smoke exposurecigarette smokingcigarette usecomplementationcomputer based predictioncomputer sciencedeep learningdeep learning based modeldeep learning methoddeep learning modeldeep learning strategydevelopmentaldisabilityexposure to cigarette smokefine artfluidgene networkgene regulatory networkgenetic etiologygenetic mechanism of diseasegenetic predictorsgenetic variantgenetic vulnerabilitygenetically predisposedgenome scalegenome wide associationgenome wide association scangenome wide association studygenome-widegenomewidegenomewide association scangenomewide association studygenomic variantglobal gene expressionglobal transcription profilehuman datahuman subjectimprovedknock-downknockdownliquidlong read seqlong-read sequencinglong-read transcript sequencinglung functionlung injurymachine based learningmortalitymultiomicsmultiple omicsnetwork modelsnew drug targetnew druggable targetnew pharmacotherapy targetnew therapeutic targetnew therapy targetnovel drug targetnovel druggable targetnovel pharmacotherapy targetnovel therapeutic targetnovel therapy targetpanomicspathophysiologypathwaypredictive modelingpublic health relevancepulmonary damagepulmonary functionpulmonary injurypulmonary tissue damagepulmonary tissue injuryrespiratory tract epitheliumresponsesequence learningshRNAshort hairpin RNAsiRNAsmall hairpin RNAsocial roletooltraittranscriptometranscriptome sequencingtranscriptomic sequencingtransforming growth factor beta1transforming growth factor beta2transforming growth factor β2translation researchtranslational investigationwhole genome association analysiswhole genome association study
Description preview
Project Summary: Chronic obstructive pulmonary disease (COPD) is a debilitating disease for which new,
disease-modifying treatments are desperately needed. Since drug targets supported by human genetic
evidence are more likely to lead to FDA-approved treatments, functional characterization of genome-wide
association study (GWAS) loci is a…
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