Xia Lin

This study identifies somatic repetitive element insertions as new biomarkers in pan-cancer by analyzing 325 cancer genomes using long-read sequencing.

SVscope improves somatic SV detection using full-length sequence models and local graph-genome optimization, achieving higher accuracy than existing methods.

The paper uses nanopore sequencing to analyze large-scale somatic insertions in NSCLC, identifying three key insertion patterns and their regulatory impacts.

The paper develops an integrated model using fragmentomic and 5-hydroxymethylcytosine features from low-pass sequencing data to achieve high sensitivity and specificity in pan-cancer detection.