Featured Publications
Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data
Yan X, Li L, Lee JS, Zheng W, Ferguson J, Zhao H. Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data. BMC Proceedings 2011, 5: s27. PMID: 22373324, PMCID: PMC3287862, DOI: 10.1186/1753-6561-5-s9-s27.Peer-Reviewed Original ResearchFunctional annotationCommon variantsDisease-associated common variantsGenetic Analysis Workshop 17 mini-exome dataGenetic Analysis Workshop 17 dataRare variantsFunctional rare variantsGenomic blocksSequencing technologiesAssociation studiesSynonymous variantsTag SNPsDifferent rare variantsAnnotationGenetic factorsRecent studiesVariantsVariant assumptionsHeritabilitySNPsCommon diseaseDisease riskRare exceptions
2021
Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants
Song S, Shan N, Wang G, Yan X, Liu JS, Hou L. Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants. Bioinformatics 2021, 37: 4737-4743. PMID: 34260700, PMCID: PMC8665759, DOI: 10.1093/bioinformatics/btab514.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesFunctional annotationGWAS signalsAssociation studiesComplex diseasesSpecific functional annotationsTissue-specific patternsNon-coding variationsPotential functional differencesDisease-relevant pathwaysPersonal genome informationGenome informationGenomic regionsComprehensive annotationHuman genomeChromosome accessibilityGenomic segmentsMore heritabilityNoncoding variantsPersonal genomesRelevant pathwaysNovel insightsFunctional differencesGenomeDisease mechanisms