Article

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

2022-03-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Large 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...

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Literature Corpus work: b5fe5184-fcb4-5b61-9441-2dcca93655d1
DOI: 10.1101/2022.03.23.22272818

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