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

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

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 a...

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Bibliographic Details
Main Authors: Bayat, A. (Author), Blankenberg, D. (Author), Brünger, T. (Author), Collins, R.L (Author), Klöckner, C. (Author), Lal, D. (Author), Lemke, J.R (Author), Macnee, M. (Author), May, P. (Author), Møller, R.S (Author), Montanucci, L. (Author), Nothnagel, M. (Author), Pérez-Palma, E. (Author), Platzer, K. (Author), Radtke, M. (Author), Stefanski, A. (Author), Talkowski, M. (Author)
Format: Article
Language:English
Published: NLM (Medline) 2023
Subjects:
copy number variation
DNA Copy Number Variations
Genome, Human
genomics
Genomics
human
human genome
Humans
phenotype
Phenotype
software
Software
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