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

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

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.

• Jezik: Angleški jezik
• Ključne besede: CNS tumours, isoforms, long-read sequencing, methylation, molecular diagnostics
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2026
• Št. strani: 19 str.
• Številčenje: Vol. 17, art. 1432
• PID: 20.500.12556/RUL-190586
• UDK: 616:577.2
• ISSN pri članku: 2730-6011
• DOI: 10.1007/s12672-026-05595-9
• COBISS.SI-ID: 288304131
• Datum objave v RUL: 30.10.2026

Gradivo je del revije

• Naslov: Discover Oncology
• Skrajšan naslov: Discov. Oncol.
• Založnik: Springer Link
• ISSN: 2730-6011
• COBISS.SI-ID: 80623107

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: CNS tumorji, tumorji osrednjega živčevja, izooblike, sekvenciranje dolgih odčitkov, metilacija, molekularna diagnostika

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P3-0054
• Naslov: Patologija in molekularna genetika

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Program financ.: Young Researchers