2024
Statistical methods for assessing the effects of de novo variants on birth defects
Xie Y, Wu R, Li H, Dong W, Zhou G, Zhao H. Statistical methods for assessing the effects of de novo variants on birth defects. Human Genomics 2024, 18: 25. PMID: 38486307, PMCID: PMC10938830, DOI: 10.1186/s40246-024-00590-z.Peer-Reviewed Original ResearchConceptsDe novo variantsAnalyzed de novo variantsDevelopment of next-generation sequencing technologiesNext-generation sequencing technologiesSequencing technologiesImprove statistical powerGenetic heterogeneitySequenced samplesStatistical powerBirth defectsDiseased individualsLow occurrenceCongenital heart diseaseVariantsGenesDeleterious effectsSequenceGeneral workflowStatistical methods
2020
Statistical Methods in Genome-Wide Association Studies
Sun N, Zhao H. Statistical Methods in Genome-Wide Association Studies. Annual Review Of Biomedical Data Science 2020, 3: 1-24. DOI: 10.1146/annurev-biodatasci-030320-041026.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesTraits of interestGenetic architectureIdentification of variantsGWAS dataStatistical methodologyStatistical challengesGenetic risk prediction modelsGenetic markersStatistical methodsHuman diseasesPhenotype informationGenetic variantsTraitsGenotype informationScientific goalsRecent progressGenesVariantsTens of thousandsHundreds of thousandsPrediction modelPathwayThousands
2017
Leveraging functional annotations in genetic risk prediction for human complex diseases
Hu Y, Lu Q, Powles R, Yao X, Yang C, Fang F, Xu X, Zhao H. Leveraging functional annotations in genetic risk prediction for human complex diseases. PLOS Computational Biology 2017, 13: e1005589. PMID: 28594818, PMCID: PMC5481142, DOI: 10.1371/journal.pcbi.1005589.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingData Interpretation, StatisticalData MiningDatabases, GeneticEpigenomicsGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansLinkage DisequilibriumPolymorphism, Single NucleotideProportional Hazards ModelsQuantitative Trait LociRisk AssessmentConceptsGenome-wide association studiesFunctional annotationGenetic risk predictionDisease-associated genetic variantsLinkage disequilibriumIdentification of thousandsWide association studyHuman complex diseasesComplex diseasesGWAS summary statisticsHuman genetics researchAssociation studiesAnnoPredGenotype dataGenetic researchGenetic variantsRelevant variantsAnnotationDisequilibriumMost diseasesDiverse typesSummary statisticsVariantsBayesian frameworkPrecision medicine
2015
Introduction to statistical methods in genome-wide association studies
Yang C, Li C, Chung D, Chen M, Gelernter J, Zhao H. Introduction to statistical methods in genome-wide association studies. 2015, 26-52. DOI: 10.1017/cbo9781107337459.005.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesPopulation genomic studiesQuantitative trait lociComplex diseasesTrait lociGenomic studiesSingle nucleotide polymorphismsGenetic basisNumber variantsNucleotide polymorphismsPharmaceutical potentialUnique resourceGenomicsLociBroad impactHaplotypesStatistical methodsPolymorphismVariantsPharmacogenomics