CNVPipe: An enhanced pipeline for accurate analysis of copy number variation from whole-genome sequencing
Jiahong Sun, Nonthaphat Kent Wong, Zhiwei Jiang, Ho‐Ming Luk, Ivan F. M. Lo, Da Di, Shijing Zhang, Raymond C.B. Wong, Wenfei Jin, Shea Ping Yip, Chien‐Ling Huang
CNVPipe improves CNV detection in WGS by integrating CNV tools with machine learning, reducing FDR and increasing sensitivity for both bulk and single-cell data.
bioRxiv · May 18, 2025 · PreprintSystems Biology