TransSSVs: a Transformer-based deep learning model for accurate detection of somatic small variants in paired tumor and normal sequencing data

Accurate identification of somatic small variants in tumors plays a crucial role in cancer diagnosis. Various somatic mutation callers have been developed; however, existing methods face limitations in modeling mapping information of flanking genomic sites (genomic sites adjacent to a somatic site) that influence the state of the somatic site. Additionally, they are unable to analyze inter-site in…