REVEAL Biobank
REVEAL Biobank

Power population-scale translational medicine and healthcare research with less effort

National Biobanks are a groundbreaking resource of rich data. But that great wealth and diversity of data brings great usability challenges.

Paradigm4 exclusively serves as an ISO-27001 certified Third Party Processor for approved PI’s, enabling their data exploration, analysis, and large computations.

REVEAL: UK Biobank reduces friction investigating complex questions

  • 500,000 participants
  • Array, WES, WGS genomic data
  • Human Genome references and annotations
  • 16,000 phenotypes: continuous, categorical, episodic, longitudinal
  • Longitudinal GP data, with over 200,000 Read3 codes
  • Longitudinal Rx and hospital episode data
  • Imaging and actigraphy data

REVEAL Biobank delivers:


  • Jumpstart your biobank project with all data modalities QA’d, organized, and ready-to-use
  • Ask complex questions naturally with task-specific high level interfaces
  • Dynamically build case / control cohorts with the Cohort selector GUI
  • Visualize GWAS/PheWAS association results with the PheGe GUI

Scalability: Queries execute responsively at population-scale across all modalities in the UK Biobank. Algorithms like Linkage Disequilibrium and GWASs scale automatically in a parallel distributed computing environment.

Extensibility: Integrate public and other biobank GWAS results. Add new data types. Incorporate an unlimited number of studies and reference datasets. Deploy any custom R, Python library functions like Plink, SAIGE, SKAT, Metal.

Cost-effectiveness: Reduce TCO, including far lower computing costs with Burst Mode™ (elastic) computing for large GWAS computations like 1 billion linear regressions in a hour for less than $300.

Reproducibility: Version raw, QA’d, and processed data as well as algorithm versions and machine-learning models. Guaranteed data integrity and security in a transaction safe and secure multi-user environment.

Scientific results: new targets and new indications have already been identified by REVEAL Biobank users. Discovery of naturally occurring genetic knockouts de-risks safety concerns.

“We went from essentially zero capability to a world-class capability in genetics.”

V.P. Research Informatics, Global Biotech


“The most advanced solution we have to bring together multiple data types and give easy access across all to our researchers.”

Principle Scientist, Translational Medicine Bioinformatics, Top 10 Pharma

Relevant Publications and Posters
Gene‑level analysis of rare variants in 379,066 whole exome sequences identifes an association of GIGYF1 loss of function with type 2 diabetes » FULL ARTICLE
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms » FULL ARTICLE
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank » FULL ARTICLE
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry » FULL ARTICLE
Rare coding variants in five DNA damage repair genes associate with timing of natural menopause » FULL ARTICLE
Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes » FULL ARTICLE
Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences » FULL ARTICLE
Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes » FULL ARTICLE
Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences » FULL ARTICLE
Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health » FULL ARTICLE
Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank » FULL ARTICLE
The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy » FULL ARTICLE
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology » FULL ARTICLE
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study » FULL ARTICLE
Bayesian model comparison for rare variant association studies of multiple phenotypes » FULL ARTICLE