Leveraging functional annotation to identify genes associated with complex diseases
Liu W, Li M, Zhang W, Zhou G, Wu X, Wang J, Lu Q, Zhao H. Leveraging functional annotation to identify genes associated with complex diseases. PLOS Computational Biology 2020, 16: e1008315. PMID: 33137096, PMCID: PMC7660930, DOI: 10.1371/journal.pcbi.1008315.Peer-Reviewed Original ResearchMeSH KeywordsEpigenesis, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMolecular Sequence AnnotationPolymorphism, Single NucleotideQuantitative Trait LociConceptsExpression quantitative trait lociComplex traitsNovel lociIdentification of eQTLGene expressionTranscriptome-wide association study methodLinkage disequilibriumQuantitative trait lociAssociation study methodsCombined Annotation Dependent Depletion (CADD) scoresAnnotation-dependent depletion scoreExpression levelsDisease-associated genesEpigenetic annotationsEpigenetic informationFunctional annotationTrait lociGenetic variationGenesPrevious GWASLociGenetic effectsTraitsComplex diseasesGWAS