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UK Biobank

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The UK Biobank1 is a British prospective health study with more than 500,000 participants.

Phenotype

The UK biobank holds extensive phenotypic data including:

  • Linked medical records from the National Health Service.
  • Responses to surveys, both at the initial enrollment visit and on follow-up.
  • Test results, such as cardiac MRI2 and exercise testing3.
  • Proteomics assay data4.

Genotype

The genomes of UK Biobank participants have been analyzed. These analyses include:

  • Initial chip-based genotyping of all participants5.
  • Subsequent exome sequencing of all participants6.
  • Subsequent short-read whole-genome sequencing of all participants7.

There is an ongoing project to apply long-read whole-genome sequencing to a subset of UK Biobank participants.

Genetics podcast interview with Sir Rory Collins on the origins and future of the UK Biobank

  1. Cathie Sudlow, John Gallacher, Naomi Allen, Valerie Beral, Paul Burton, John Danesh, Paul Downey, Paul Elliott, Jane Green, Martin Landray, and others. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS medicine, 12(3):e1001779, 2015. URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC4380465/. ↩

  2. James P Pirruccello, Paolo Di Achille, Victor Nauffal, Mahan Nekoui, Samuel F Friedman, Marcus DR Klarqvist, Mark D Chaffin, Lu-Chen Weng, Jonathan W Cunningham, Shaan Khurshid, and others. Genetic analysis of right heart structure and function in 40,000 people. Nature Genetics, 54(6):792–803, 2022. URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10313645/. ↩

  3. Niek Verweij, Yordi J van de Vegte, and Pim van der Harst. Genetic study links components of the autonomous nervous system to heart-rate profile during exercise. Nature Communications, 9(1):898, 2018. ↩

  4. Benjamin B Sun, Joshua Chiou, Matthew Traylor, Christian Benner, Yi-Hsiang Hsu, Tom G Richardson, Praveen Surendran, Anubha Mahajan, Chloe Robins, Steven G Vasquez-Grinnell, and others. Plasma proteomic associations with genetics and health in the UK Biobank. Nature, 622(7982):329–338, 2023. URL: https://www.nature.com/articles/s41586-023-06592-6. ↩

  5. Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O’Connell, and others. The uk biobank resource with deep phenotyping and genomic data. Nature, 562(7726):203–209, 2018. ↩

  6. Quanli Wang, Ryan S Dhindsa, Keren Carss, Andrew R Harper, Abhishek Nag, Ioanna Tachmazidou, Dimitrios Vitsios, Sri VV Deevi, Alex Mackay, Daniel Muthas, and others. Rare variant contribution to human disease in 281,104 uk biobank exomes. Nature, 597(7877):527–532, 2021. URL: https://pubmed.ncbi.nlm.nih.gov/34375979/. ↩

  7. UK Biobank Whole-Genome Sequencing Consortium and others. Whole-genome sequencing of 490,640 UK Biobank participants. Nature, 645(8081):692, 2025. URL: https://www.nature.com/articles/s41586-025-09272-9. ↩