ArticleGenetics in medicine open2023
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.
Article in Genetics in medicine open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.American journal of human genetics · 2025Article
- Article
- Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.European journal of human genetics : EJHG · 2025Article
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Authors and funding
20 authors.
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Abstract
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validity Framework for evaluation of GDR was applied. Most of the assessed genes were without a phenotype entry in the Online Mendelian Inheritance in Man (OMIM) database. Our Biodatabank with genetic data from over 670,000 previously tested individuals, in addition to data available in literature and public databases, were used for gene curation. Results: We confirmed 61 GDR (Definitive: 4 genes, Strong: 22 genes, Moderate: 35 genes). For 84 of 109 gene-disease pairs, a higher score was reached when using data from our Biodatabank in addition to externally obtainable data. This increased the final level of classification in 21 of the genes. Over 400 patients received a genetic report with clinically relevant variants in these 61 genes. Conclusion: Our results demonstrate the importance of careful assessment of gene clinical validity data, along with the use of genetic data repositories. Implementation of the ClinGen Clinical Validity Framework for assessment of GDR is relatively straightforward. We encourage diagnostic laboratories to implement such a system and contribute to closing the knowledge gap in genetic research and diagnostics.
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