Featured Publications
SANTO: a coarse-to-fine alignment and stitching method for spatial omics
Li H, Lin Y, He W, Han W, Xu X, Xu C, Gao E, Zhao H, Gao X. SANTO: a coarse-to-fine alignment and stitching method for spatial omics. Nature Communications 2024, 15: 6048. PMID: 39025895, PMCID: PMC11258319, DOI: 10.1038/s41467-024-50308-x.Peer-Reviewed Original Research
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 ResearchMeSH KeywordsGenetic HeterogeneityGenomicsHigh-Throughput Nucleotide SequencingHumansSample SizeWorkflowConceptsDe 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
2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2022
An unbiased kinship estimation method for genetic data analysis
Jiang W, Zhang X, Li S, Song S, Zhao H. An unbiased kinship estimation method for genetic data analysis. BMC Bioinformatics 2022, 23: 525. PMID: 36474154, PMCID: PMC9727941, DOI: 10.1186/s12859-022-05082-2.Peer-Reviewed Original ResearchConceptsRigorous mathematical proofGenetic data analysisReal data analysisUnbiased estimation methodEstimation methodIndividual-level genotype dataSample correlation coefficientMathematical proofMathematical derivationMean square errorCoefficient estimationMatrix methodEstimation accuracyEstimation biasHeritability estimationRoot mean square errorData analysisSquare errorAccurate estimatesEstimationUKINVariances of genotypesSpurious associationsKinship coefficientsEstimates
2021
The impact of removing former drinkers from genome‐wide association studies of AUDIT‐C
Dao C, Zhou H, Small A, Gordon KS, Li B, Kember RL, Ye Y, Gelernter J, Xu K, Kranzler HR, Zhao H, Justice AC. The impact of removing former drinkers from genome‐wide association studies of AUDIT‐C. Addiction 2021, 116: 3044-3054. PMID: 33861876, PMCID: PMC9377185, DOI: 10.1111/add.15511.Peer-Reviewed Original Research