Featured Publications
Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation
Song S, Jiang W, Zhang Y, Hou L, Zhao H. Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation. American Journal Of Human Genetics 2022, 109: 802-811. PMID: 35421325, PMCID: PMC9118121, DOI: 10.1016/j.ajhg.2022.03.013.Peer-Reviewed Original ResearchConceptsLinkage disequilibrium score regressionComplex traitsSingle nucleotide polymorphismsSNP heritabilityGenome-wide association studiesDisequilibrium score regressionHigh-throughput technologiesHeritable phenotypesAssociation studiesGenetic studiesCryptic relatednessLD informationScore regressionHeritabilityGenetic contributionHeritability estimationPopulation stratificationDisease mechanismsTraitsLD matrixOnly summary statisticsUK BiobankPolygenicitySummary statisticsRelatedness
2024
A mediation analysis framework based on variance component to remove genetic confounding effect
Dong Z, Zhao H, DeWan A. A mediation analysis framework based on variance component to remove genetic confounding effect. Journal Of Human Genetics 2024, 69: 301-309. PMID: 38528049, DOI: 10.1038/s10038-024-01232-x.Peer-Reviewed Original ResearchMediation analysis frameworkSingle nucleotide polymorphismsMediation analysisPleiotropic single nucleotide polymorphismsUK Biobank dataConfounding effectsTrait pairsBiobank dataIndividual-levelEpidemiological studiesCausal effectsGenetic signalsEstimated effectsLinear regressionNucleotide polymorphismsStandard errorData analysisGenetic correlationsPhenotypeIndirect effectsPleiotropyVariance componentsOutcomesRegression
2017
A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics
Lu Q, Li B, Ou D, Erlendsdottir M, Powles RL, Jiang T, Hu Y, Chang D, Jin C, Dai W, He Q, Liu Z, Mukherjee S, Crane PK, Zhao H. A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics. American Journal Of Human Genetics 2017, 101: 939-964. PMID: 29220677, PMCID: PMC5812911, DOI: 10.1016/j.ajhg.2017.11.001.Peer-Reviewed Original ResearchConceptsGWAS summary statisticsGenome-wide association studiesComplex traitsSingle nucleotide polymorphismsGenetic covarianceGenetic architectureLarge-scale genome-wide association studiesStrong genetic covarianceDistinct genetic architecturesSignificant genetic covarianceLate-onset Alzheimer's diseaseHigh minor allele frequencyGenetic profileFunctional genomeAmyotrophic lateral sclerosisMajor neurodegenerative diseasesMinor allele frequencyGenetic basisAssociation studiesTraitsLarge-scale inferenceSummary statisticsBiological interpretabilityAllele frequenciesNeurodegenerative diseases
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 methodsPolymorphismVariantsPharmacogenomicseQTL mapping
Chen M, Yang C, Li C, Zhao H. eQTL mapping. 2015, 208-228. DOI: 10.1017/cbo9781107337459.016.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesPopulation genomic studiesQuantitative trait lociComplex diseasesEQTL mappingTrait lociGenomic studiesSingle nucleotide polymorphismsGenetic basisNumber variantsNucleotide polymorphismsPharmaceutical potentialUnique resourceGenomicsLociBroad impactHaplotypesPolymorphism