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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply