Open access
Sep 2026
Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data
Abstract Detecting structural variations (SVs) via long-read sequencing remains difficult due to algorithmic variations and genomic complexity, alongside a shortage of comprehensive benchmarks for somatic variants. We present a unified benchmarking framework covering both germline and somatic SV detection, which evalua...
Hua Shi, Yi-Hang Lin, Da-Chen Liu et al.
· Briefings in Bioinformatics · 0 citations