Research map: ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

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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
  2. CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions · Max Schubach · 2023 · 454 citations · Cites this paper
  3. Reinforcement learning-based dynamic ensemble for missense variant effect prediction and tiered prioritization of VUS · Syed Hassan Abbas · 2026 · Related
  4. A global reference for human genetic variation · Corresponding authors · 2015 · 20479 citations · Cited by this paper
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  10. The mutational constraint spectrum quantified from variation in 141,456 humans · Konrad J. Karczewski · 2020 · 10435 citations · Cited by this paper
  11. Critical assessment of missense variant effect predictors on disease-relevant variant data · Ruchir Rastogi · 2025 · 27 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. The Ensembl Variant Effect Predictor · William M. McLaren · 2016 · 9004 citations · Cited by this paper
  14. Mechanisms and Delivery of tRNA Therapeutics · Cian Ward · 2024 · 25 citations · Cites this paper
  15. Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases · 2026 · Related
  16. ClinVar: improving access to variant interpretations and supporting evidence · Melissa Landrum · 2017 · 4619 citations · Cited by this paper
  17. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort · Sek Won Kong · 2025 · 15 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. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders · Joanna S. Amberger · 2014 · 2815 citations · Cited by this paper
  20. Using large-scale population-based data to improve disease risk assessment of clinical variants · Iain S. Forrest · 2025 · 11 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. The Missing Diversity in Human Genetic Studies · Giorgio Sirugo · 2019 · 1625 citations · Cited by this paper
  23. Expanding the utility of variant effect predictions with phenotype-specific models · David F. Stein · 2025 · 8 citations · Cites this paper
  24. MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics · 2025 · Related
  25. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting · Peter D. Stenson · 2020 · 862 citations · Cited by this paper
  26. SNPred outperforms other ensemble-based SNV pathogenicity predictors and elucidates the challenges of using ClinVar for evaluation of variant classification quality · Ivan Molotkov · 2023 · 7 citations · Cites this paper
  27. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases · Michelle M. Clark · 2018 · 657 citations · Cited by this paper
  28. Revealing the genetic complexity of hypothyroidism: integrating complementary association methods · Roei Zucker · 2024 · 7 citations · Cites this paper
  29. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria · Vikas Rao Pejaver · 2022 · 598 citations · Cited by this paper
  30. Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies · Ziye Zeng · 2025 · 7 citations · Cites this paper
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  32. The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis · Vasiliki-Sofia Grech · 2025 · 6 citations · Cites this paper
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  34. Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background · Remi Stevelink · 2025 · 6 citations · Cites this paper
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  36. MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants · Alba Sáez-Matía · 2024 · 5 citations · Cites this paper
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  38. Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations · Satoshi Koyama · 2026 · 5 citations · Cites this paper
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