Yuichi Shiraishi from the National Cancer Center in Japan presented at London Calling 2023 on “Precise characterization of somatic complex structural variations from paired long-read sequencing using nanomonsv.” Shiraishi explained that long-read sequencing is effective for detecting somatic structural variations (SVs), though there are few tools for systematically detecting somatic SVs using paired tumor and control ONT data. They developed nanomonsv that produces single-base resolution breakpoints, polishes the reads, and removes many false positives. They used cancer cell lines and detected numerous SVs. These SVs were validated by PCR. Several SVs were only detected by using Nanopore sequencing. The software can also detect mobile element insertion sites. They also developed a new pipeline to classify single breakend SVs. Shiraishi explained how nanomonsv can help detect single breakends connected to telomeres. They summarized by explaining that nanomonsv can identify rather complex structural variation with single-base resolution breakpoints. They noted that this could be used to improve detection of additional breakends.
