Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

oleh: Yu Chen, Amy Y. Wang, Courtney A. Barkley, Yixin Zhang, Xinyang Zhao, Min Gao, Mick D. Edmonds, Zechen Chong

Format: Article
Diterbitkan: Nature Portfolio 2023-01-01

Deskripsi

Long-read sequencing is promising for the detection of structural variants (SVs), which requires algorithms with high sensitivity and precision. Here, the authors develop DeBreak, an algorithm for comprehensive and accurate SV detection in long-read sequencing data across different platforms, which outperforms other SV callers.