2018
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS
Dobbyn A, Huckins L, Boocock J, Sloofman L, Glicksberg B, Giambartolomei C, Hoffman G, Perumal T, Girdhar K, Jiang Y, Raj T, Ruderfer D, Kramer R, Pinto D, Akbarian S, Roussos P, Domenici E, Devlin B, Sklar P, Stahl E, Sieberts S, Sklar P, Buxbaum J, Devlin B, Lewis D, Gur R, Hahn C, Hirai K, Toyoshiba H, Domenici E, Essioux L, Mangravite L, Peters M, Lehner T, Lipska B, Cicek A, Lu C, Roeder K, Xie L, Talbot K, Hemby S, Essioux L, Browne A, Chess A, Topol A, Charney A, Dobbyn A, Readhead B, Zhang B, Pinto D, Bennett D, Kavanagh D, Ruderfer D, Stahl E, Schadt E, Hoffman G, Shah H, Zhu J, Johnson J, Fullard J, Dudley J, Girdhar K, Brennand K, Sloofman L, Huckins L, Fromer M, Mahajan M, Roussos P, Akbarian S, Purcell S, Hamamsy T, Raj T, Haroutunian V, Wang Y, Gümüş Z, Senthil G, Kramer R, Logsdon B, Derry J, Dang K, Sieberts S, Perumal T, Visintainer R, Shinobu L, Sullivan P, Klei L. Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. American Journal Of Human Genetics 2018, 102: 1169-1184. PMID: 29805045, PMCID: PMC5993513, DOI: 10.1016/j.ajhg.2018.04.011.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociConditional expression quantitative trait lociCommonMind ConsortiumEQTL signalsGenome-wide association study (GWAS) lociSchizophrenia GWASContext-specific regulationQuantitative trait lociCo-localization analysisGene expression levelsGWAS associationsNovel genesTrait lociStudy lociCausal genesEQTL dataFine mappingGenomic featuresGWAS statisticsGene expressionGenesGWASLociExpression levelsHuman brain samples
2017
Evaluating Synthetic Activation and Repression of Neuropsychiatric-Related Genes in hiPSC-Derived NPCs, Neurons, and Astrocytes
Ho S, Hartley B, Flaherty E, Rajarajan P, Abdelaal R, Obiorah I, Barretto N, Muhammad H, Phatnani H, Akbarian S, Brennand K. Evaluating Synthetic Activation and Repression of Neuropsychiatric-Related Genes in hiPSC-Derived NPCs, Neurons, and Astrocytes. Stem Cell Reports 2017, 9: 615-628. PMID: 28757163, PMCID: PMC5550013, DOI: 10.1016/j.stemcr.2017.06.012.Peer-Reviewed Original ResearchConceptsSynthetic activationRisk genesCell typesModulation of transcriptionNeuropsychiatric risk genesCommon single nucleotide variantsCas9 fusion proteinsEndogenous expression levelsNeural cell typesPluripotent stem cell-derived neural progenitor cellsRare copy number variationsCopy number variationsSingle nucleotide variantsNeural progenitor cellsGene functionFunctional annotationGenetic studiesGenesRisk variantsProgenitor cellsExpression levelsTranscriptionRepressionPositional effectsProtein