London Calling 2023: Precise characterization of somatic complex structural variations from paired long-read sequencing data using nanomonsv

We present our novel software, nanomonsv, for the detection of somatic structural variations (SVs) using tumour and matched control long-read sequencing data. The current version of nanomonsv includes two detection modules: the Canonical SV module and the Single Breakend SV module. The 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, the Single Breakend SV module enables the detection of complex SVs that can only be identified by long-read technologies, such as SVs with highly repetitive centromeric sequences, and LINE1 and virus-mediated rearrangements. Our approaches can be applied to cancer long-read sequencing data and may reveal different characteristics of somatic SVs, leading to a better understanding of the mutational processes and functional consequences of somatic SVs.