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
2019
63 TRANSCRIPTOMIC IMPUTATION ANALYSIS IN ANOREXIA NERVOSA IDENTIFIES BOTH METABOLIC AND PSYCHIATRIC AETIOLOGIES
Huckins L, Dobbyn A, Thornton L, Group of the PGC E, Devlin B, Sieberts S, Cox N, Im H, Breen G, Sklar P, Bulik C, Stahl E. 63 TRANSCRIPTOMIC IMPUTATION ANALYSIS IN ANOREXIA NERVOSA IDENTIFIES BOTH METABOLIC AND PSYCHIATRIC AETIOLOGIES. European Neuropsychopharmacology 2019, 29: s818. DOI: 10.1016/j.euroneuro.2017.08.064.Peer-Reviewed Original ResearchGene-tissue associationsTranscriptome imputationCommonMind ConsortiumGene expression prediction modelsGenome-wide significant lociTissue-specific gene expressionExpression prediction modelsMetabolic tissuesCaudate basal gangliaSignificant lociGenotype dataCharacterization of AnGene associationsReference panelGene expressionAetiology of ANMetabolic phenotypeMolecular pathwaysGenetic correlationsAssociation TestPsychiatric disordersAN riskMetabolic systemsImputation analysisBackground Anorexia nervosa