Comparative study of tools for copy number variation detection using next-generation sequencing data

Comparative study of tools for copy number variation detection using next-generation sequencing data

Abstract Copy number variation (CNV) plays an important role in disease susceptibility as a type of intermediate-scale structural variation (SV). Accurate CNV detection is crucial for understanding human genetic diversity, elucidating disease mechanisms, and advancing cancer genomics. A variety of C...

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Bibliographic Details
Main Authors: Ruchao Du, Jinxin Dong, Hua Jiang, Minyong Qi, Zuyao Zhao
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Copy number variation
Next-generation sequencing
Variant length
Sequencing depth
Tumor purity
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Online Access:https://doi.org/10.1038/s41598-025-06527-3
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