A germline and somatic mutation sorting (GeMSort) algorithm for extracting presumed germline pathogenic variants in liquid genomic profiling: Insights from Database of Center for Cancer Genomics and Advanced Therapeutics (C-CAT)
Satoyo Oda, Manami Matsukawa, Chikako Tomozawa, Noriko Tanabe, Tomoko Watanabe, Takafumi Koyama, Teruhiko Yoshida, Makoto Hirata
The paper develops a GeMSort algorithm to accurately distinguish germline from somatic variants in liquid biopsy genomic profiling using real-world data from over 11,000 patients.
medRxiv · May 29, 2025 · PreprintGenetic & Genomic Medicine