Context-aware single-cell multiomics approach identifies cell-type-specific lung cancer susceptibility genes
Long E, Yin J, Shin J, Li Y, Li B, Kane A, Patel H, Sun X, Wang C, Luong T, Xia J, Han Y, Byun J, Zhang T, Zhao W, Landi M, Rothman N, Lan Q, Chang Y, Yu F, Amos C, Shi J, Lee J, Kim E, Choi J. Context-aware single-cell multiomics approach identifies cell-type-specific lung cancer susceptibility genes. Nature Communications 2024, 15: 7995. PMID: 39266564, PMCID: PMC11392933, DOI: 10.1038/s41467-024-52356-9.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide association study lociSusceptibility genesLung cancer susceptibility genesTranscription factor footprintsChromatin accessibility mapsCis-regulatory elementsRisk-associated variantsRare cell typesRegulate gene expressionCell typesCell type-specificCancer susceptibility genesCausal variantsAssociation studiesGene regulationGene functionMultiomics approachTarget genesLociGene expressionGenesType-specificHuman lung cellsCCREsHigh-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility
Long E, Patel H, Golden A, Antony M, Yin J, Funderburk K, Feng J, Song L, Hoskins J, Amundadottir L, Hung R, Amos C, Shi J, Rothman N, Lan Q, Consortium I, Choi J. High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility. American Journal Of Human Genetics 2024, 111: 1405-1419. PMID: 38906146, PMCID: PMC11267514, DOI: 10.1016/j.ajhg.2024.05.021.Peer-Reviewed Original ResearchGenome-wide association studiesGenome-wide association study lociFunctional variantsTranscriptional activityAllelic transcriptional activityLung cancer susceptibilityRisk-associated lociPotential functional variantsCell type-specific expressionRisk-associated variantsLung cancer cell growthNon-protein-codingComprehensive functional analysisTranscription factor analysisCancer susceptibilityCancer cell growthGWAS lociEpigenomic dataCRISPR interferenceAssociation studiesLinkage disequilibriumAllelic effectsSignificant variantsGenetic variantsSusceptibility genes