2023
MASSIVELY PARALLEL CHARACTERIZATION OF CONTEXT SPECIFIC REGULATORY RISK ELEMENTS ACROSS PSYCHIATRIC DISORDERS IN HUMAN-INDUCED PLURIPOTENT STEM CELL-DERIVED GLUTAMATERGIC NEURONS
Townsley K, Sen A, Lee J, Deans P, Jia M, Fernandez-Garcia M, Cartwright S, Cohen S, Goate A, Brennand K, Huckins L. MASSIVELY PARALLEL CHARACTERIZATION OF CONTEXT SPECIFIC REGULATORY RISK ELEMENTS ACROSS PSYCHIATRIC DISORDERS IN HUMAN-INDUCED PLURIPOTENT STEM CELL-DERIVED GLUTAMATERGIC NEURONS. European Neuropsychopharmacology 2023, 75: s7-s8. DOI: 10.1016/j.euroneuro.2023.08.022.Peer-Reviewed Original ResearchCandidate regulatory sequencesExpression quantitative trait lociRegulatory sequencesTranscriptional activityGWAS statisticsSingle-cell CRISPR screensCell type-specific mannerParallel reporter assaysQuantitative trait lociPutative regulatory elementsHigh-throughput sequencingFine-mapping approachFine-mapping methodsLarge-scale identificationFunctional impactTranscriptomic imputationTrait lociKey genesCRISPR screensLarge-scale screening techniquesRegulatory elementsNeuropsychiatric traitsCausal SNPsReporter assaysCasual variants
2020
Massively parallel techniques for cataloguing the regulome of the human brain
Townsley KG, Brennand KJ, Huckins LM. Massively parallel techniques for cataloguing the regulome of the human brain. Nature Neuroscience 2020, 23: 1509-1521. PMID: 33199899, PMCID: PMC8018778, DOI: 10.1038/s41593-020-00740-1.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsRegulatory elementsTarget genesParallel reporter assaysPutative regulatory elementsNon-coding regionsDisease-associated lociSpecific expression patternsCandidate risk lociPluripotent stem cellsHigh-throughput assaysRelevant molecular pathwaysTranscriptional responseRegulatory architectureRisk lociExpression patternsReporter assaysComplex brain disordersMolecular pathwaysRegulomeStem cellsRisk architectureGenetic riskGenesLociGenetic diagnosis