Article

ClassifyCNV: a tool for clinical annotation of copy-number variants

2020-07-21

Abstract excerpt

<h4>Summary</h4> Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements. Accurate identification and clinical annotation of CNVs is essential when evaluating patients with neurodevelopmental disorders and congenital anomalies. Here, we present ClassifyCNV, a tool...

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Literature Corpus work: 3dc2d924-e324-58d5-ae51-8c737a9fadf0
DOI: 10.1101/2020.07.20.213215

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