80. IMPLICATION OF COMPLEX STRUCTURAL GENOME VARIATION IN THE GENETIC ARCHITECTURE OF NEUROPSYCHIATRIC DISORDERS: INSIGHTS FROM HUMAN POPULATION ANALYSIS AND FROM POSTMORTEM BRAINS OF INDIVIDUALS WITH PSYCHIATRIC DISORDERS
Zhou B, Arthur J, Guo H, Kim T, Huang Y, Pattni R, Song G, Palejev D, Dohna H, Roussos P, Kundaje A, Hallmayer J, Snyder M, Wong, Urban A. 80. IMPLICATION OF COMPLEX STRUCTURAL GENOME VARIATION IN THE GENETIC ARCHITECTURE OF NEUROPSYCHIATRIC DISORDERS: INSIGHTS FROM HUMAN POPULATION ANALYSIS AND FROM POSTMORTEM BRAINS OF INDIVIDUALS WITH PSYCHIATRIC DISORDERS. European Neuropsychopharmacology 2024, 87: 93. DOI: 10.1016/j.euroneuro.2024.08.194.Peer-Reviewed Original ResearchWhole-genome sequencingComplex structural variationsHuman genomeMarker SNPsContinental populationsRisk allelesShort-read whole-genome sequencingSingle-nuclei RNA-seqFunctional genomics dataComplex genetic architectureDNA sequence variantsComplex genetic componentPost-mortem brainsPopulation-scale studiesDifferentially expressed genesVariant typeIntegration of genotypesStructural variationsGWAS lociGenome biologyCandidate lociIndividual genomesLinkage analysisGenomic analysisGenomic dataDetection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders
Zhou B, Arthur J, Guo H, Kim T, Huang Y, Pattni R, Wang T, Kundu S, Luo J, Lee H, Nachun D, Purmann C, Monte E, Weimer A, Qu P, Shi M, Jiang L, Yang X, Fullard J, Bendl J, Girdhar K, Kim M, Chen X, Consortium P, Greenleaf W, Duncan L, Ji H, Zhu X, Song G, Montgomery S, Palejev D, Dohna H, Roussos P, Kundaje A, Hallmayer J, Snyder M, Wong H, Urban A. Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. Cell 2024, 187: 6687-6706.e25. PMID: 39353437, DOI: 10.1016/j.cell.2024.09.014.Peer-Reviewed Original ResearchComplex structural variationsNatural human genetic variationHuman genetic variationCell type-specific expressionHuman-specific evolutionDifferential gene expressionStructural variationsContinental populationsChromatin accessibilityHuman genomeGenetic variationNeural genesGenomeGene expressionRisk allelesMolecular etiologyCell typesGenesPostmortem brainsChromatinLociAllelesMachine-learning-based methodsMultiomicsBrain regionsResolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
Zhou B, Purmann C, Guo H, Shin G, Huang Y, Pattni R, Meng Q, Greer S, Roychowdhury T, Wood R, Ho M, Dohna H, Abyzov A, Hallmayer J, Wong W, Ji H, Urban A. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2322834121. PMID: 39042694, PMCID: PMC11295037, DOI: 10.1073/pnas.2322834121.Peer-Reviewed Original ResearchConceptsLong-read sequencingPulse-field gel electrophoresisBase-pair resolutionDNA methylation patternsCell-type specific analysisCell type-specificChromosomal interactionsSequence assemblySegmental duplicationsGenome sequenceGenomic rearrangementsGenomic regionsChromosomal breakpointsHuman genomeGenomic recombinationMethylation patternsSequence analysisHaplotype-specificDeletion haplotypesGel electrophoresisGenomeAmplification-freeBreakpoint locationsMicrodeletion disorderType-specific