cuteSV-OL: a real-time structural variation detection framework for nanopore sequencing devices.

Abstract

Nanopore sequencing technology enables real-time sequencing and is widely used in rapid detection applications. However, in clinical scenarios, existing structural variant (SV) detection tools typically separate sequencing from computation, limiting their timeliness for clinical applications. To address this, we introduce cuteSV-OL, a novel framework designed for real-time SV discovery, which can be embedded within nanopore sequencing instruments to analyze data concurrently with its generation. Additionally, cuteSV-OL features a real-time SV detection rate evaluation module, allowing users to terminate sequencing early when appropriate, thereby reducing time and cost. Experimental results show that on a standard desktop computer, cuteSV-OL can perform real-time analysis during sequencing and complete SV calling within min after sequencing ends, achieving performance comparable to offline methods. This approach has the potential to enhance rapid clinical diagnostics. cuteSV-OL is released under the MIT license and is available at https://github.com/gwmHIT/cuteSV-OL. It can also be installed via Bioconda or accessed through https://doi.org/10.5281/zenodo.17777436.