ArticleScientific reports2022
Automated prediction of the clinical impact of structural copy number variations.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer.Molecular oncology · 2026Article
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.NAR genomics and bioinformatics · 2026Article
- Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.Human genetics · 2026Article
- Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation.Journal of translational medicine · 2025Article
- A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers.Scientific reports · 2025Article
- Case report: Deciphering the clinical significance of a novel partialFrontiers in oncology · 2025Article
- CNVoyant a machine learning framework for accurate and explainable copy number variant classification.Scientific reports · 2024Article
- CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants.Research square · 2024Article
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.Scientific reports · 2023Article
- dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.BMC genomics · 2023Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of these structural variants is a challenging problem due to highly variable numbers of gene, regulatory, or other genomic elements affected by the CNV. This led to the demand for the interpretation tools that would relieve researchers, laboratory diagnosticians, genetic counselors, and clinical geneticists from the laborious process of annotation and classification of CNVs. We designed and validated a prediction method (ISV; Interpretation of Structural Variants) that is based on boosted trees which takes into account annotations of CNVs from several publicly available databases. The presented approach achieved more than 98% prediction accuracy on both copy number loss and copy number gain variants while also allowing CNVs being assigned "uncertain" significance in predictions. We believe that ISV's prediction capability and explainability have a great potential to guide users to more precise interpretations and classifications of CNVs.
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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.