Prioritizing 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 ResearchMeSH KeywordsAlzheimer DiseaseComputer SimulationGene ExpressionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansConceptsGene 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