Long-read sequencing enhances molecular and epigenetic characterisation in brain tumour diagnostics

Petrin, Sara (author), Kert, Špela (author), Zupan, Andrej (author), Videtič Paska, Alja (author), Kouter, Katarina (author), Matjašič, Alenka (author)

Long-read sequencing (LRS) technologies have enhanced molecular diagnostics by enabling comprehensive analysis of genetic, epigenetic and transcriptomic alterations in various genetic diseases and cancer. Emerging applications of LRS in central nervous system (CNS) tumour diagnostics demonstrate its ability to detect clinically relevant mutations, gene fusions, copy number variations, and epigenetic changes. With ongoing advancements in sequencing chemistry and data analysis tools, LRS has the potential to improve the molecular diagnosis and management of CNS tumours, ultimately leading to improved patient outcomes. However, despite numerous advantages, several challenges remain, including the need for high-quality nucleic acids and the lack of standardised bioinformatics tools. Integrating LRS into routine diagnostics requires further improvement of computational pipelines and the development of standardised analytical workflows. Our review aims to provide insight into novel applications of LRS in CNS tumour diagnostics and a comprehensive overview of available bioinformatics tools to support the analysis and interpretation of LRS data.

• Language: English
• Keywords: CNS tumours, isoforms, long-read sequencing, methylation, molecular diagnostics
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2026
• Number of pages: 19 str.
• Numbering: Vol. 17, art. 1432
• PID: 20.500.12556/RUL-190586
• UDC: 616:577.2
• ISSN on article: 2730-6011
• DOI: 10.1007/s12672-026-05595-9
• COBISS.SI-ID: 288304131
• Publication date in RUL: 30.10.2026

Record is a part of a journal

• Title: Discover Oncology
• Shortened title: Discov. Oncol.
• Publisher: Springer Link
• ISSN: 2730-6011
• COBISS.SI-ID: 80623107

Licences

• License: CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
• Link: http://creativecommons.org/licenses/by-nc-nd/4.0/
• Description: The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.

Secondary language

• Language: Slovenian
• Keywords: CNS tumorji, tumorji osrednjega živčevja, izooblike, sekvenciranje dolgih odčitkov, metilacija, molekularna diagnostika

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0054
• Name: Patologija in molekularna genetika

• Funder: ARRS - Slovenian Research Agency
• Funding programme: Young Researchers