A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases
Liu W, Deng W, Chen M, Dong Z, Zhu B, Yu Z, Tang D, Sauler M, Lin C, Wain L, Cho M, Kaminski N, Zhao H. A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases. PLOS Genetics 2023, 19: e1010825. PMID: 37523391, PMCID: PMC10414598, DOI: 10.1371/journal.pgen.1010825.Peer-Reviewed Original ResearchConceptsCell typesDisease-associated tissuesWide association studyComplex diseasesCell type proportionsDisease-relevant tissuesReal GWAS dataFunctional genesTranscriptomic dataGWAS dataGenetic dataAssociation studiesNovel statistical frameworkChronic obstructive pulmonary diseaseStatistical frameworkObstructive pulmonary diseaseIdiopathic pulmonary fibrosisBreast cancer riskType proportionsBlood CD8Pulmonary diseasePulmonary fibrosisPredictive biomarkersLung tissueBreast cancerIntegrative multi-omics analysis reveals novel idiopathic pulmonary fibrosis endotypes associated with disease progression
Ruan P, Todd J, Zhao H, Liu Y, Vinisko R, Soellner J, Schmid R, Kaner R, Luckhardt T, Neely M, Noth I, Porteous M, Raj R, Safdar Z, Strek M, Hesslinger C, Palmer S, Leonard T, Salisbury M. Integrative multi-omics analysis reveals novel idiopathic pulmonary fibrosis endotypes associated with disease progression. Respiratory Research 2023, 24: 141. PMID: 37344825, PMCID: PMC10283254, DOI: 10.1186/s12931-023-02435-0.Peer-Reviewed Original ResearchConceptsComposite physiologic indexProgression-free survivalTransplant-free survivalMolecular subtypesSubtype 1Risk groupsProspective registrySubtype 2Disease progressionProspective registry of patientsIPF-PRO RegistryB-cell receptor signalingBackgroundIdiopathic pulmonary fibrosisRegistry of patientsCox proportional hazards modelsIntegrative multi-omics analysisAccumulation of extracellular matrixProportional hazards modelTransplant-freeProgression-FreeMolecular endotypesEnrichment of clinical trialsAntifibrotic treatmentMulti-omics analysisPulmonary fibrosis
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