Global Biobank Engine


Genetic Association Results

Note: We have aggregated summary statistics from over 750,000 individuals across three population cohorts: UK Biobank, Million Veterans Program and Biobank Japan. We are continuously adding data from other population cohorts in Global Biobank Engine. Please contact us if you want it to be featured.

For UK Biobank we present summary statistic results from the UK Biobank hospital in-patient health-related outcomes summary information data (Data-Field 41202); computational grouping of phenotypes with cancer (Category 100092) registry, death registry data (Category 100093), algorithmically-defined outcomes (Category 42), and verbal questionnaire data (Category 100071); and manually curated grouping of phenotypes.

Terms of use

Tutorial

Up next

September, 5 2019

- Biobank Japan summary statistics added.

September, 5 2019

- Million Veterans Program summary statistics added.

September, 5 2019

- UK Biobank exome sequencing summary statistics added.

September, 5 2019

- PRS app added.

November 21, 2017

- HLA Disease Map added (Here).

October 25, 2017

- Update of gene-based results: Top 100 genes per phenotype and top 100 phenotypes per gene.

October 18, 2017

- Release of genetic parameters app I: genetic correlation.

October 18, 2017

- Release of decomposition app.

September 1, 2017

- Check out quantitative measures II.

August 24, 2017

- GBE Power App available.

August 18, 2017

- Support for gene-based results: top five phenotypes per gene (independent effects model; more documentation soon).

August 13, 2017

- Support for gene-based results per phenotype (Independent effects model for all protein-altering variants; Similar effects model for PTVs, description coming soon).

August 12, 2017

- Support for UK Biobank minor allele frequency.

August 9, 2017

- Support for spanish translation.

August 9, 2017

- Initial support for quantitative measures (more QC required).

August 8, 2017

- Included cluster plots for PTVs (see example). Updated support for region and variant search (see example, Thanks to Raymond Walters).

August 7, 2017

- Links to Mouse Knockout project

July 24, 2017

- Initial support for 337,000 individuals in UK Biobank

July 10, 2017

- Added support for HWE filtering and cancer phenotypes

July 7, 2017

- Added support for region search (phenotype tooltips soon)

July 2, 2017

- Quality control of variants

July 2, 2017

- Additional data loaded along with phenotype tooltips

June 7, 2017

- Public release of Global Biobank Engine!

April 1, 2017

- Internal release.

bioRxiv preprints

9 November 2019

- Sex-specific genetic effects across biomarkers

17 October 2019

- Polygenic risk modeling with latent trait-related genetic components

14 October 2019

- Reported CCR5-∆32 deviation from Hardy-Weinberg equilibrium is explained by poor genotyping of rs62625034

21 August 2019

- Assessing digital phenotyping to enhance genetic studies of human diseases

20 August 2019

- WhichTF is dominant in your open chromatin data?

26 June 2019

- Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

5 June 2019

- Genetics of 38 blood and urine biomarkers in the UK Biobank

7 May 2019

- A Fast and Flexible Algorithm for Solving the Lasso in Large-scale and Ultrahigh-dimensional Problems

4 March 2019

- Constraint-based analysis for causal discovery in population-based biobanks

4 October 2018

- FasTag: automatic text classification of unstructured medical narratives (Original title: "Deep learning facilitates rapid cohort identification using human and veterinary clinical narratives")

31 January 2018

- Bayesian model comparison for rare variant association studies of multiple phenotypes

Refereed papers

6 September 2019

- Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology (DeGAs app on GBE)

1 August 2019

- Phenome-wide Burden of Copy-Number Variation in the UK Biobank

31 July 2019

- Rare and common variant discovery in complex disease: the IBD case study

29 March 2019

- Vulnerabilities of transcriptome-wide association studies

4 January 2019

- Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide

5 December 2018

- Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

30 November 2018

- SNPs2ChIP: Latent Factors of ChIP-seq to infer functions of non-coding SNPs

24 October 2018

- DeepTag: inferring diagnoses from veterinary clinical notes

11 Jul 2018

- Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

24 May 2018

- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

24 April 2018

- Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study (video journal club)