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The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T. Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O’Connell, Adrián Cortés, Samantha Welsh, Alan Young, Mark Effingham, Gil McVean, Stephen Leslie, Naomi E. Allen, Peter Donnelly, Jonathan Marchini. Nature, 2018-10-02
Topic: Risk, prevention and care in population studies
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open resource is unique in its size and scope. A rich variety of phenotypic and health-related information is available on each participant, including biological measurements, lifestyle indicators, biomarkers in blood and urine, and imaging of the body and brain. Follow-up information is provided by linking health and medical records. Genome-wide genotype data have been collected on all participants, providing many opportunities for the discovery of new genetic associations and the genetic bases of complex traits. Here we describe the centralized analysis of the genetic data, including genotype quality, properties of population structure and relatedness of the genetic data, and efficient phasing and genotype imputation that increases the number of testable variants to around 96 million. Classical allelic variation at 11 human leukocyte antigen genes was imputed, resulting in the recovery of signals with known associations between human leukocyte antigen alleles and many diseases.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Bycroft, C., Freeman, C., Petkova, D., Band, G., Elliott, L. T., Sharp, K., et al. (2018). The UK Biobank resource with deep phenotyping and genomic data. Nature. https://doi.org/10.1038/s41586-018-0579-z
Vancouver
Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K, et al. The UK Biobank resource with deep phenotyping and genomic data. Nature. 2018. doi:10.1038/s41586-018-0579-z. PMID: 30305743.
BibTeX
@article{bycroft2018-30305743,
author = {Bycroft, Clare and Freeman, Colin and Petkova, Desislava and Band, Gavin and Elliott, Lloyd T. and Sharp, Kevin and Motyer, Allan and Vukcevic, Damjan and Delaneau, Olivier and O’Connell, Jared and Cortés, Adrián and Welsh, Samantha and Young, Alan and Effingham, Mark and McVean, Gil and Leslie, Stephen and Allen, Naomi E. and Donnelly, Peter and Marchini, Jonathan},
title = {{The UK Biobank resource with deep phenotyping and genomic data}},
journal = {Nature},
year = {2018},
doi = {10.1038/s41586-018-0579-z},
pmid = {30305743},
url = {https://doi.org/10.1038/s41586-018-0579-z}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 19 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Why it matters
Describes the UK Biobank, a cohort study with genetic and health data on about 500,000 people in the United Kingdom aged 40 to 69 at recruitment, including blood and urine biomarkers and body and brain imaging. The paper covers how the genetic data were checked and processed, raising the number of testable variants to around 96 million.
How this study scored 63/100
Published in a top-tier journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on strength of evidence, so that was left out: it earned 60 of the 95 points we could judge it on, which is 63 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 10 / 10 | Tier 1 — top-tier general journal (Nature) |
| Journal's citation record | 4 / 4 | Nature: journal h-index 1,841 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | — / 5 | No evidence rating recorded — left out of this score |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2018 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 8,970 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 897.0 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 6 / 6 | Cited 278.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 4 / 4 | Cited 4,405 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Jonathan Marchini: h-index 86 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Oxford: institution h-index 2,205 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 11 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30305743) |
| Free to read | 2 / 2 | Free to read |
| Points | 60 / 95 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 60 of the 95 points we could judge it on is 63 out of 100. |
| Total | 63 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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