Article

Rapid, Reliable, and Interpretable CNV Curation Visualizations for Diagnostic Settings with SeeNV

2024-05-12

Abstract excerpt

<h4>ABSTRACT</h4> Copy number variants (CNVs), structural alterations in the genome involving duplication or deletion of DNA segments, are implicated in various health conditions. Despite their clinical significance, accurate identification and interpretation of CNVs remain challenging, especially in the context of whole exome sequencing (WES), which is commonly used in clinical diagnostic laboratories. While WES...

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Literature Corpus work: c8f5186a-3adc-5a51-9cf6-2c83a139a7a5
DOI: 10.1101/2024.05.08.593244

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