Bayesian Estimation of Genetic Regulatory Effects in High-throughput Reporter Assays
Majoros WH, Kim YS, Barrera A, Li F, Wang X, Cunningham SJ, Johnson GD, Guo C, Lowe WL, Scholtens DM, Hayes MG, Reddy TE, Allen AS. Bayesian Estimation of Genetic Regulatory Effects in High-throughput Reporter Assays. Bioinformatics 2019, 36: 331-338. PMID: 31368479, PMCID: PMC7999138, DOI: 10.1093/bioinformatics/btz545.Peer-Reviewed Original ResearchConceptsHigh-throughput reporterBiological replicatesGenetic regulatory effectsAdditional biological replicatesGenetic association testsAllelic effectsReporter geneGene expressionSequencing coverageDisease mutationsDisease-causing variantsRegulatory differencesLinkage disequilibriumGenetic variantsExperimental replicatesRegulatory effectsPoisson binomial distributionAllele frequenciesPatient's DNASupplementary dataBayesian hierarchical modelBayesian estimationRare variantsReporterDNA