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
OTTERS: a powerful TWAS framework leveraging summary-level reference data
Dai Q, Zhou G, Zhao H, Võsa U, Franke L, Battle A, Teumer A, Lehtimäki T, Raitakari O, Esko T, Epstein M, Yang J. OTTERS: a powerful TWAS framework leveraging summary-level reference data. Nature Communications 2023, 14: 1271. PMID: 36882394, PMCID: PMC9992663, DOI: 10.1038/s41467-023-36862-w.Peer-Reviewed Original Research
2000
Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers
Zhao H, Zhang S, Merikangas K, Trixler M, Wildenauer D, Sun F, Kidd K. Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers. American Journal Of Human Genetics 2000, 67: 936-946. PMID: 10968775, PMCID: PMC1287895, DOI: 10.1086/303073.Peer-Reviewed Original ResearchHaplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, in a Global Representation of Populations
Kidd J, Pakstis A, Zhao H, Lu R, Okonofua F, Odunsi A, Grigorenko E, Tamir B, Friedlaender J, Schulz L, Parnas J, Kidd K. Haplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, in a Global Representation of Populations. American Journal Of Human Genetics 2000, 66: 1882-1899. PMID: 10788337, PMCID: PMC1378054, DOI: 10.1086/302952.Peer-Reviewed Original Research