ArticleBioinformatics (Oxford, England)2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.Genome medicine · 2026Article
- Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.medRxiv : the preprint server for health sciences · 2026Article
- Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.Neurological research and practice · 2025Article
- Systematic assessment of structural variant annotation tools for genomic interpretation.Life science alliance · 2025Article
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Control-FREEC viewer: a tool for the visualization and exploration of copy number variation data.BMC bioinformatics · 2024Article
- A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.BMC medical genomics · 2023Review
- The thorny complexities of visualization research for clinical settings: A case study from genomics.Frontiers in bioinformatics · 2023Article
- Genetic landscape of Parkinson's disease and related diseases in Luxembourg.Frontiers in aging neuroscience · 2023Article
- Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker.Bioinformatics (Oxford, England) · 2022Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
Abstract
motivationPathogenic copy-number variants (CNVs) can cause a heterogeneous spectrum of rare and severe disorders. However, most CNVs are benign and are part of natural variation in human genomes. CNV pathogenicity classification, genotype-phenotype analyses, and therapeutic target identification are challenging and time-consuming tasks that require the integration and analysis of information from multiple scattered sources by experts.
resultsHere, we introduce the CNV-ClinViewer, an open-source web application for clinical evaluation and visual exploration of CNVs. The application enables real-time interactive exploration of large CNV datasets in a user-friendly designed interface and facilitates semi-automated clinical CNV interpretation following the ACMG guidelines by integrating the ClassifCNV tool. In combination with clinical judgment, the application enables clinicians and researchers to formulate novel hypotheses and guide their decision-making process. Subsequently, the CNV-ClinViewer enhances for clinical investigators' patient care and for basic scientists' translational genomic research. AVAILABILITY AND IMPLEMENTATION: The web application is freely available at https://cnv-ClinViewer.broadinstitute.org and the open-source code can be found at https://github.com/LalResearchGroup/CNV-clinviewer.
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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.