ArticleNature genetics2017
Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.Current protocols in human genetics · 2019Pooled it
- Large-Scale Phenome-Wide Association Study ofCirculation. Genomic and precision medicine · 2018Trial
- Endocrine-Metabolic Crosstalk Between Diabetes Mellitus and Hypothyroidism: From Network Mechanisms to Translational Stratification.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Dissecting pleiotropy to gain mechanistic insights into human disease.Nature reviews. Genetics · 2026Review
- Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.Molecular psychiatry · 2025Review
- Catch me if you can: signal localization with knockoffJournal of the Royal Statistical Society. Series B, Statistical methodology · 2025Article
- Twenty-Five Years of Evolution and Hurdles in Electronic Health Records and Interoperability in Medical Research: Comprehensive Review.Journal of medical Internet research · 2025Review
- Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.Molecular metabolism · 2024Review
- Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk.Nature genetics · 2023Article
- Topic modeling identifies novel genetic loci associated with multimorbidities in UK Biobank.Cell genomics · 2023Article
- Filtering the rejection set while preserving false discovery rate control.Journal of the American Statistical Association · 2023Article
- Operational intricacies of sequencing-based surveillance in developing countries.Annals of translational medicine · 2022Article
- A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank.Communications biology · 2022Article
- Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.Nature communications · 2022Article
- Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank.British journal of cancer · 2022Article
- Reproducible disease phenotyping at scale: Example of coronary artery disease in UK Biobank.PloS one · 2022Article
- Article
- The impact of age on genetic risk for common diseases.PLoS genetics · 2021Article
- Molecular characteristics of Staphylococcus aureus associated prosthetic joint infections after hip fractures treated with hemiarthroplasty: a retrospective genome-wide association study.Scientific reports · 2020Article
- Genetic architecture of common non-Alzheimer's disease dementias.Neurobiology of disease · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
Abstract
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics. Our method displays a more than 20% increase in power to detect genetic effects over other approaches and identifies new associations between classical human leukocyte antigen (HLA) alleles and common immune-mediated diseases (IMDs). By applying the approach to genetic risk scores (GRSs), we show the extent of genetic sharing among IMDs and expose differences in disease perception or diagnosis with potential clinical implications.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.