RT Journal
A1 Liu, Xuyan
A1 Xia, Lin
A1 Qiao, Yixin
A1 Li, Yang
A1 Huang, Yan
A1 Yue, Bingyan
A1 Liang, Xi
A1 Yang, Xin
A1 Zhang, Honghui
A1 Zhang, Jiaxun
A1 Chen, Xiao
A1 Xie, Dan
A1 Liu, Jifeng
T1 Nanopore sequencing identifies high-frequency somatic structural variations in laryngeal squamous cell carcinoma genomes
JF Genome Research 
JO Genome Research 
YR 2026 
FD April 08 
DO 10.1101/gr.281046.125 
SP gr.281046.125 
UL http://genome.cshlp.org/content/early/2026/04/08/gr.281046.125.abstract 
AB Laryngeal squamous cell carcinoma (LSCC) is an aggressive cancer with poor quality of life. Understanding the somatic mutations in its genome can help us comprehend its occurrence and progression. Although somatic structural variations (SVs) have been documented in LSCC, conventional short-read sequencing lacks the sensitivity to effectively detect high-frequency SVs shared across multiple samples - variants that play a crucial role in tumorigenesis. Here, we presented SomaGauss-SV, a somatic SVs detection workflow leveraging nanopore long-read sequencing data. Benchmarking against five paired tumor cell line datasets showed SomaGauss-SV consistently achieves a balanced high precision and recall. SomaGauss-SV applied to 15 paired LSCC tumor-blood samples uncovered a comprehensive SVs landscape and a significant positive correlation between somatic deletion burden and smoking intensity. Furthermore, a high-frequency somatic simple repeat expansion was identified in 28/39 (71.79%) of LSCC patients, upregulating the expression of genes TP53BP2 and FBXO28 through spatial proximity. These findings underscore the potential of long-read sequencing and SomaGauss-SV for uncovering recurrent somatic SVs in LSCC, providing valuable resources for biomarker discovery.