2019
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
1993
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s).
Petty E, Gibson L, Fountain J, Bolognia J, Yang-Feng T, Housman D, Bale A. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). American Journal Of Human Genetics 1993, 53: 96-104. PMID: 8317504, PMCID: PMC1682234.Peer-Reviewed Original ResearchConceptsCutaneous malignant melanomaGerm-line deletionMalignant melanomaPrimary malignant melanomaMelanoma predisposition genePlexiform neurofibromaPulsed-field gel electrophoresisMultiple melanomasPredisposition genesMelanoma tumorigenesisMelanomaTandem repeat polymorphismCytogenetic rearrangementsPatient's DNAHigh-resolution karyotypeMode of inheritanceWomen
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