ArticleGenome medicine2022
Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.
Article in Genome medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Phenomic profiles and disease patterns of 1.9 million participants from Our Future Health.Nature medicine · 2026Article
- Genome-Wide Risk Assessment and Clinical Prediction of Iodinated Contrast Media-Induced Anaphylaxis.Allergy, asthma & immunology research · 2026Article
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- Developing therapeutics for rare cardiovascular diseases.American heart journal · 2026Review
- Detecting comorbidity patterns in rare disease patients with machine learning.Frontiers in epidemiology · 2026Article
- PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.PLoS genetics · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Sequence-based GWAS in 180,000 German Holstein cattle reveals new candidate variants for milk production traits.Genetics, selection, evolution : GSE · 2025Article
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.BioData mining · 2025Article
- Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.medRxiv : the preprint server for health sciences · 2024Article
- Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye.Frontiers in public health · 2024Article
- Characterization of the effects of outliers on ComBat harmonization for removing inter-site data heterogeneity in multisite neuroimaging studies.Frontiers in neuroscience · 2023Article
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6 authors.
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Abstract
backgroundRare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mapping and limited statistical power. Population biobanks, such as the UK Biobank, recruit many individuals who can be affected by rare diseases; however, investigation into their utility for rare disease research remains limited. We hypothesized the UK Biobank can be used as a unique population assay for rare diseases in the general population.
methodsWe constructed a consensus mapping between ICD-10 codes and ORPHA codes for rare diseases, then identified individuals with each rare condition in the UK Biobank, and investigated their age at recruitment, sex bias, and comorbidity distributions. Using exome sequencing data from 167,246 individuals of European ancestry, we performed genetic association controlling for case/control imbalance (SAIGE) to identify potential rare pathogenic variants for each disease.
resultsUsing our mapping approach, we identified and characterized 420 rare diseases affecting 23,575 individuals in the UK Biobank. Significant genetic associations included JAK2 V617F for immune thrombocytopenic purpura (p = 1.24 × 10
conclusionsEnhanced disease mapping and increased power from population biobanks can elucidate the demographics and genetic associations for rare diseases.
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