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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174702/
https://www.ncbi.nlm.nih.gov/pubmed/37104749
http://dx.doi.org/10.1093/bioinformatics/btad290

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174702/
https://www.ncbi.nlm.nih.gov/pubmed/37104749
http://dx.doi.org/10.1093/bioinformatics/btad290

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