2020
Parsing the Functional Impact of Noncoding Genetic Variants in the Brain Epigenome
Powell SK, O'Shea C, Brennand KJ, Akbarian S. Parsing the Functional Impact of Noncoding Genetic Variants in the Brain Epigenome. Biological Psychiatry 2020, 89: 65-75. PMID: 33131715, PMCID: PMC7718420, DOI: 10.1016/j.biopsych.2020.06.033.Peer-Reviewed Original ResearchConceptsGenetic variantsDisease-associated genetic variationProtein-coding lociRisk-associated genetic variantsGene regulatory lociThousands of variantsFunctional impactRare genetic variantsEpigenomic mappingRegulatory lociBrain epigenomeGenetic variationDNA sequencesNoncoding variantsGene expressionIntegrative analysisEpigenomic architectureMolecular pathwaysPsychiatric geneticsFunctional readoutRisk variantsLociVariantsHighlight findingsEpigenome
2018
Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci
Onuchic V, Lurie E, Carrero I, Pawliczek P, Patel RY, Rozowsky J, Galeev T, Huang Z, Altshuler RC, Zhang Z, Harris RA, Coarfa C, Ashmore L, Bertol JW, Fakhouri WD, Yu F, Kellis M, Gerstein M, Milosavljevic A. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science 2018, 361 PMID: 30139913, PMCID: PMC6198826, DOI: 10.1126/science.aar3146.Peer-Reviewed Original ResearchConceptsRegulatory lociGenetic variationDeep whole-genome bisulfite sequencingWhole-genome bisulfite sequencingDisease-associated genetic variationThousands of lociGene regulatory lociAllelic imbalanceState of DNAEpigenome mapsStochastic switchingBisulfite sequencingDNA methylationGene transcriptionSuch lociDifferent relative frequenciesMethylation imbalanceLociDistinct cellsHigh-resolution mapsEpigenomeTissue typesMethylationUnifying modelMethylome
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