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Biobank Atlas

A curated map of open-source software and reproducible analyses for human biobanks

Awesome Links Last reviewed Contributions welcome

Human biobanks connect deeply characterized participant data with biospecimens, electronic health records, imaging, and molecular measurements. Biobank Atlas is a selective guide to the public GitHub repositories that make those resources easier to access, analyze, reproduce, and govern.

This is a catalog of code and documentationβ€”not participant-level data. Access to controlled biobank data still requires approval from the relevant study.

Contents

What belongs here

A repository is included when it is public, clearly relevant to human biobanks, and meets at least one of these impact signals:

  • πŸ›οΈ Official β€” maintained by a biobank, national cohort, or research infrastructure.
  • πŸ“„ Published β€” supports a peer-reviewed methods or resource paper.
  • 🌍 Reference resource β€” released a widely used biobank analysis or public results collection.
  • 🧰 Reusable β€” provides a maintained method or workflow designed for biobank-scale data.

GitHub stars are deliberately not an inclusion threshold: official infrastructure and specialist scientific software can be highly consequential while serving a small developer community. One-off paper scripts, generic bioinformatics packages, private repositories, mirrors, and repositories that contain only a dataset citation are out of scope.

Official biobank and cohort repositories

UK Biobank

Official repositories from UK Biobank, centered on its cloud-based Research Analysis Platform (RAP).

Repository What it provides Primary language Signal
UKB-RAP-Notebooks-Access Practical notebooks for finding, accessing, and extracting UK Biobank data on RAP. HTML / notebooks πŸ›οΈ Official
UKB-RAP-Notebooks-Genomics Examples for array, exome, and whole-genome data on RAP. Jupyter Notebook πŸ›οΈ Official
UKB-RAP-Imaging-ML Imaging and machine-learning examples, including scalable image processing. Jupyter Notebook πŸ›οΈ Official
UKB-RAP-Workflows Multi-stage WDL workflows designed to run on RAP. WDL πŸ›οΈ Official
SNP-filtering Notebook workflow for filtering genotyping data by variant or genomic region. Shell / notebooks πŸ›οΈ Official
UKB-Git-Audit-Tool Scans Git history for accidental exposure of potentially sensitive UK Biobank content. Python πŸ›οΈ Official

All of Us Research Program

Open infrastructure from the US National Institutes of Health's All of Us Research Program.

Repository What it provides Primary language Signal
workbench Source for the secure Researcher Workbench used to analyze the program's Curated Data Repository. Java πŸ›οΈ Official
raw-data-repository APIs and services for the program's participant-facing raw data repository. Python πŸ›οΈ Official
curation Data curation and quality workflows used to build research releases. Python πŸ›οΈ Official
data-browser Source for the public Data Browser. TypeScript πŸ›οΈ Official
workbench-snippets Reusable R and Python notebook snippets for analyses inside Workbench. Jupyter Notebook πŸ›οΈ Official
ukb-cross-analysis-demo-project Demonstration of a harmonized analysis spanning All of Us and UK Biobank. Jupyter Notebook πŸ›οΈ Official Β· cross-biobank

FinnGen

FinnGen combines Finnish biobank samples with national longitudinal health-register data and releases summary results publicly.

Repository What it provides Primary language Signal
finngen-documentation Versioned documentation for public FinnGen releases, methods, endpoints, and downloads. Markdown πŸ›οΈ Official
finemapping-pipeline Production WDL pipeline for statistical fine-mapping of FinnGen GWAS results. WDL πŸ›οΈ Official Β· reusable
saige-pipelines WDL workflows used to run SAIGE association analyses at FinnGen scale. WDL πŸ›οΈ Official Β· reusable
regenie-pipelines WDL workflows for REGENIE association analyses. WDL πŸ›οΈ Official Β· reusable
phenotype-matching Maps FinnGen endpoints to UK Biobank/PheCode phenotypes using ICD definitions. Python πŸ›οΈ Official Β· cross-biobank
META_ANALYSIS Tools for multi-study GWAS meta-analysis and harmonization. Python πŸ›οΈ Official Β· reusable
risteys Code behind FinnGen's disease-endpoint and disease-trajectory browser. Elixir πŸ›οΈ Official Β· reference resource

Our Future Health

Public tools from Our Future Health, the UK's large prospective health research program.

Repository What it provides Primary language Signal
tre-example-notebooks Example analyses for the program's trusted research environment (TRE). Jupyter Notebook πŸ›οΈ Official
ofh-synthetic-data-generator Generates synthetic tabular data with an Our Future Health-like schema for development and testing. Python πŸ›οΈ Official
tre-package-access Machine-readable list of packages approved for restricted TRE projects. Markdown πŸ›οΈ Official Β· governance

Cross-biobank networks and standards

Repository Network or standard What it provides Primary language Signal
globalbiobankmeta/flagship Global Biobank Meta-analysis Initiative (GBMI) Reproducible analysis code for GBMI's multi-ancestry, multi-biobank flagship study. R 🌍 Reference resource
globalbiobankmeta/PRS GBMI Code for cross-biobank polygenic risk score analyses. R πŸ“„ Published
BBMRI-ERIC/miabis BBMRI-ERIC MIABIS terminology and information models for describing and exchanging biobank metadata. TypeScript / schemas πŸ›οΈ Official Β· standard
BBMRI-ERIC/negotiator BBMRI-ERIC Open-source system for structured access negotiation around samples and human data. Java πŸ›οΈ Official Β· infrastructure
BBMRI-ERIC/directory-scripts BBMRI-ERIC Operational and export tools for the European biobank Directory. Python πŸ›οΈ Official Β· infrastructure

Landmark public analysis resources

These repositories are not maintained by a biobank operator, but they produced highly reused public analyses of major biobank datasets.

Repository Biobank What it provides Primary language Signal
Nealelab/UK_Biobank_GWAS UK Biobank QC, phenotype processing, association code, and documentation for the Neale Lab UKB GWAS release. Python 🌍 Reference resource
atgu/ukbb_pan_ancestry UK Biobank Code for the multi-ancestry Pan-UK Biobank GWAS resource and its analyses. Python / R πŸ“„ Nature Genetics (2024)
Nealelab/ukb_exomes UK Biobank Main pipeline for single-variant and gene-based analysis across thousands of UKB exome phenotypes. Python πŸ“„ Cell Genomics (2022)
Nealelab/ukb_common UK Biobank Shared phenotype and analysis code supporting the Genebass exome resource. Python 🌍 Reference resource
Nealelab/UKBB_ldsc UK Biobank Reproducible LD-score regression analysis and results-site generation for UKB GWAS. R 🌍 Reference resource

Biobank-scale analysis software

Association testing and scalable genomics

Repository Best for Primary language Evidence of impact
rgcgithub/regenie Fast whole-genome regression, single-variant tests, and rare-variant aggregate tests in large cohorts. C++ πŸ“„ Nature Genetics (2021)
saigegit/SAIGE Case-control imbalance, related samples, and scalable single-variant and gene-based tests. C++ / R πŸ“„ Nature Genetics (2018)
hail-is/hail Distributed manipulation and analysis of very large genomic datasets in cloud or cluster environments. Python / Scala 🧰 Used by UKB, gnomAD, Genebass, and Pan-UKB
chrchang/plink-ng Efficient genotype QC, transformation, scoring, and association with PLINK 2. C / C++ 🧰 Foundational large-scale genetics toolkit
projectglow/glow Genomic processing and GWAS on Apache Spark and Databricks. Scala / Python πŸ“„ Bioinformatics (2021)
GeneticAnalysisinBiobanks/GRAB Robust GWAS methods for binary, survival, longitudinal, and other complex biobank traits. C++ 🧰 Purpose-built for biobank-scale association

Reproducible GWAS and phenotype workflows

Repository Best for Primary language Evidence of impact
genepi/nf-gwas Portable, highly parallel GWAS workflows with REGENIE and interactive reporting. Nextflow πŸ“„ NAR Genomics and Bioinformatics (2024)
ikmb/gwas-qc Single-command QC and association testing across multi-cohort or biobank-scale studies (BIGwas). Python / Nextflow πŸ“„ GigaScience (2021)
MRCIEU/PHESANT Automated phenome-wide scans and consistent transformation of UKB phenotypes. R πŸ“„ International Journal of Epidemiology (2018)
lcpilling/ukbrapR Building reproducible R workflows on the current UK Biobank RAP. R 🧰 RAP-focused, actively maintained
kenhanscombe/ukbtools Exploring and reshaping legacy, locally downloaded UKB filesets. R ⚠️ Widely used, but no longer maintained for RAP

Results browsers

Repository Best for Primary language Evidence of impact
statgen/pheweb Building interactive browsers for hundreds or thousands of GWAS; deployed by FinnGen and other biobanks. Python πŸ“„ Bioinformatics (2019)
FINNGEN/ld_server Serving linkage-disequilibrium calculations against FinnGen reference panels. Python πŸ›οΈ FinnGen production infrastructure

Repository at a glance

Area Repositories Start here
Official biobank infrastructure 22 UKB RAP access notebooks, All of Us Workbench, FinnGen documentation
Cross-biobank networks and standards 5 GBMI flagship, MIABIS
Landmark public analyses 5 Neale Lab UKB GWAS, Pan-UKB, UKB exomes
Reusable analysis software 13 REGENIE, SAIGE, Hail, nf-gwas

How this list is curated

The catalog was last reviewed on 23 August 2026. Entries are checked for a public GitHub repository, a clear connection to human biobanks, useful documentation, and at least one impact signal defined above. Repository activity and ownership can change, so every entry should be reassessed periodically.

This list aims for high-value coverage, not an impossible claim of absolute completeness. Important biobanks without meaningful public GitHub repositories are not represented. A repository's inclusion is not an endorsement of its scientific conclusions, security model, or fitness for clinical use.

Contributing

Contributions are welcome. Before opening a pull request, confirm that the repository:

  1. Is public and contains substantive code, workflows, schemas, or technical documentation.
  2. Directly supports a named human biobank, cross-biobank initiative, or analysis at biobank scale.
  3. Has a clear license or reuse statement whenever possible.
  4. Has an official, peer-reviewed, reference-resource, or strong reuse signal.
  5. Does not expose participant-level or otherwise controlled data.

Use this template in a pull request:

- **Repository:** https://github.com/owner/repository
- **Biobank or network:**
- **One-sentence description:**
- **Primary language:**
- **Impact evidence:** official ownership, DOI, public deployment, or adoption
- **Maintenance status:** active / stable / legacy

Keep descriptions factual and compact. Add a DOI for published software, label archived or legacy tools, and place the entry in the narrowest applicable section. Please do not rank projects by stars or submit repositories solely because they analyzed a biobank once.

Responsible use

  • Follow each biobank's data-access agreement, publication policy, and participant-withdrawal requirements.
  • Never commit participant-level data, credentials, access tokens, field exports, or small-cell results to a public repository.
  • Treat example pipelines as starting points: verify genome build, ancestry handling, phenotype definitions, relatedness, consent scope, and software versions for your study.
  • Biobank-derived models and associations may not transfer across populations. Evaluate representation, calibration, and potential harms before downstream or clinical use.

License

The curated text in this repository is available under CC0 1.0. Every linked project retains its own license and terms of use.


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