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UK-Biobank Single Variant Association Analysis Results

1. Binary phenome analysis

Using SAIGE, we have analyzed ~1,400 UKBiobank Phecode binary phenotypes (400,000 White British samples) on 28 million imputed variants. All analysis summary statistics are available from the following link. 

  • Pheweb (all phewebs in UMich)link 


Acknowledgment: The analysis was done in collaboration with Dr. Willer and Dr. Abecasis groups. The Pheweb was created by Dr. Abecasis


2. Categorical phenotype analysis

POLMM (Proportional Odds Logistic Mixed Model) approaches are designed for ordinal categorical data analysis in large cohort studies. For UK Biobank data analysis (on 258 ordinal categorical phenotypes including 150 food and other preferences), we use a sparse GRM to adjust for sample relatedness.

UK-Biobank Gene-BasedRare Variant Association Results 

1. UK-Biobank 200K WES

Using SAIGE-GENE+, we analyzed UK-Biobank 200K WES data for 30 quantitative and 141 binary phenotypes. 

2. UK-Biobank Imputed data analysis

Using SAIGE-GENE, we have carried out gene-based rare variant test (MAF < 0.01) for 53 UKBiobank quantitative phenotypes (400,000 White British samples). Missense and stop-gain variants were used in the analysis. The association test p-value are available from the following link.

3. UK-Biobank 50K WES, Binary Phenome Analysis

Using robust SKAT-O approach for binary phenotypes, we analyzed UK-Biobank WES data for 791 binary phenotypes. 

UK-Biobank GxE, Gene-set, Survival analyses

Using SPAGE, we have carried out GxE analysis for 80 selected phenotype x environment combinations. The association test p-value are available from the following link.

Using Gauss, we carried out gene-set association analysis using UK-Biobank SAIGE results

Using SPACox, we have carried out GWAS survival analysis for 13 selected phenotypes. The association test p-value are available from the following link.

Korea Biobank (KoGES) data analysis GWAS

GWAS analysis results for 76 phenotypes in Korean Biobank (KoGES)

Note: FTP site does not work currently. We are working on resolving this issue

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