Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv.

ABSTRACT: We present our novel software, nanomonsv, for detecting somatic structural variations (SVs) using tumor and matched control long-read sequencing data with a single-base resolution. The current version of nanomonsv includes two detection modules, Canonical SV module, and Single breakend SV module. Using tumor/control paired long-read sequencing data from three cancer and their matched lymphoblastoid lines, we demonstrate that Canonical SV module can identify somatic SVs that can be captured by short-read technologies with higher precision and recall than existing methods. In addition, we have developed a workflow to classify mobile element insertions while elucidating their in-depth properties, such as 5' truncations, internal inversions, as well as source sites for 3' transductions. Furthe

SUBMITTER: Shiraishi Y 

PROVIDER: S-EPMC10415145 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature