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 dataPrioritizing disease-related rare variants by integrating gene expression data
Guo H, Urban A, Wong H. Prioritizing disease-related rare variants by integrating gene expression data. PLOS Genetics 2024, 20: e1011412. PMID: 39348415, PMCID: PMC11466430, DOI: 10.1371/journal.pgen.1011412.Peer-Reviewed Original ResearchConceptsGene expression dataRare variantsExpression dataRare variant association methodsExcess of rare variantsImpact of rare variantsContext of human diseaseHuman genetic variationGenetic variationGene expressionComplex diseasesHuman diseasesGenesMolecular mechanismsFunctional consequencesRare variant typesAlzheimer's diseaseVariant typeVariantsAssociation methodStatistical frameworkSimulation studySample sizeOmicsAlzheimer