Research map: Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  7. The UK Biobank resource with deep phenotyping and genomic data · Clare Bycroft · 2018 · 10126 citations · Cited by this paper
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  9. Circulating tumor DNA precision oncology enables effective and sensitive molecular diagnostics and actionable target detection in pediatric solid tumors - the INFORM experience · 2026 · Related
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  11. Characterization of the effects of outliers on ComBat harmonization for removing inter-site data heterogeneity in multisite neuroimaging studies · Qichao Han · 2023 · 13 citations · Cites this paper
  12. Integrative stratification of response to immunotherapy using host and microbial signatures in patients with advanced non-small cell lung cancer · 2026 · Related
  13. Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population · Anna Fry · 2017 · 4403 citations · Cited by this paper
  14. Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye · Sinem Durmuş · 2025 · 5 citations · Cites this paper
  15. Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases · 2026 · Related
  16. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database · Stéphanie Nguengang Wakap · 2019 · 1877 citations · Cited by this paper
  17. UK Biobank: Transforming drug discovery and precision medicine · Jelena Bešević · 2025 · 3 citations · Cites this paper
  18. Long-read transcriptome sequencing and Drosophila-based functional validation reveal novel gene fusions in fusion panel-negative gliomas · 2026 · Related
  19. Oncogenically active MYD88 mutations in human lymphoma · Vu N. Ngo · 2010 · 1539 citations · Cited by this paper
  20. Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms · Lane Fitzsimmons · 2024 · 2 citations · Cites this paper
  21. Comprehensive genomic characterization of extraintestinal pathogenic Escherichia coli isolated from neonates: multiple center insights into virulence, resistance, and transmission dynamics · 2026 · Related
  22. Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies · Ana A. Ferreiro · 2002 · 366 citations · Cited by this paper
  23. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients · Lane Fitzsimmons · 2025 · 1 citation · Cites this paper
  24. Infiltrating monocyte-derived macrophages does not survive long term in stroke brain despite their dominance in the acute ischemic core and myeloid derived IGF-1 play dichotomous roles in stroke recovery · 2026 · Related
  25. Outrageous prices of orphan drugs: a call for collaboration · Lucio Luzzatto · 2018 · 162 citations · Cited by this paper
  26. Phenomic profiles and disease patterns of 1.9 million participants from Our Future Health · Vincent John Straub · 2026 · 1 citation · Cites this paper
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  28. Development and application of rare diseases biobank · Dan Guo · 2023 · Cites this paper
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  30. Anxiety and depression is common in individuals living with a rare disease: exploring the impact of pain and physical activity in UK Biobank data · Claire Hill · 2024 · Cites this paper
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  32. Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community · D. A. Magee · 2024 · Cites this paper
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  34. Biosample collection in a biobank to solve problems of personalized medicine · O. V. Kopylova · 2024 · Cites this paper
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  36. Developing therapeutics for rare cardiovascular diseases · Joseph B Lerman · 2025 · Cites this paper
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  38. PERADIGM: Phenotype embedding similarity-based rare disease gene mapping · Wangjie Zheng · 2025 · Cites this paper
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