2023
Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke
Xie Y, Acosta J, Ye Y, Demarais Z, Conlon C, Chen M, Zhao H, Falcone G. Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke. Stroke 2023, 54: 800-809. PMID: 36762557, PMCID: PMC10467223, DOI: 10.1161/strokeaha.122.040883.Peer-Reviewed Original ResearchConceptsGene-based testingRare genetic variationGene-based analysisGenetic variationAssociation studiesGenome-wide association studiesSingle-variant association analysisWide significance levelSusceptibility risk lociWide association studyDeleterious missense variantsMissense rare variantsBonferroni-corrected thresholdWhole-exome sequencing dataRare variantsSingle variant analysisHeritable traitRisk lociExome-wide studySequencing dataExome sequencing analysisAssociation analysisSequencing analysisMissense variantsTraits
2014
Statistical Methods for the Analysis of Next Generation Sequencing Data from Paired Tumor-Normal Samples
Chen M, Hou L, Zhao H. Statistical Methods for the Analysis of Next Generation Sequencing Data from Paired Tumor-Normal Samples. Frontiers In Probability And The Statistical Sciences 2014, 379-404. DOI: 10.1007/978-3-319-07212-8_19.Peer-Reviewed Original ResearchStatistical methodsSingle nucleotide alterationsSequencing dataNext-generation sequencing technologiesGeneration sequencing technologyNext-generation sequencing dataGeneration sequencing dataGenomic eraNormal sequencing dataTumor-normal samplesCancer genomesSequencing technologiesSomatic variationNucleotide alterationsNumber alterationsUnprecedented resolutionDNA levelsGenomeAlterations