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Article

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Bioinformatics (Oxford, England) - 4 May 2023

Macnee Marie, Pérez-Palma Eduardo, Brünger Tobias, Klöckner Chiara, Platzer Konrad, Stefanski Arthur, Montanucci Ludovica, Bayat Allan, Radtke Maximilian, Collins Ryan L, Talkowski Michael, Blankenberg Daniel, Møller Rikke S, Lemke Johannes R, Nothnagel Michael, May Patrick, Lal Dennis

Abstract excerpt

MOTIVATION: Pathogenic 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...

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Identifiers

PMID: 37104749
DOI: 10.1093/bioinformatics/btad290
PMCID: PMC10174702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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