20.500.12556/RUL-190586 Long-read sequencing enhances molecular and epigenetic characterisation in brain tumour diagnostics 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. CNS tumours isoforms long-read sequencing methylation molecular diagnostics CNS tumorji tumorji osrednjega živčevja izooblike sekvenciranje dolgih odčitkov metilacija molekularna diagnostika true false true Angleški jezik Slovenski jezik Članek v reviji 2026-10-30 07:48:03 2026-10-30 07:48:08 2026-10-31 04:34:04 0000-00-00 00:00:00 2026 0 0 19 str. art. 1432 Vol. 17 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616:577.2 2730-6011 10.1007/s12672-026-05595-9 288304131 RAZ_Petrin_Sara_2026.pdf RAZ_Petrin_Sara_2026.pdf 1 EDA6A30D12D7A9D95544B96540206A44 cec5294b6da539834d5b424a0be8c357257736a3de4fa7124bc58b5e2db1e52a a5545e15-d42e-11f1-aea2-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=252111 https://link.springer.com/article/10.1007/s12672-026-05595-9#citeas 1 d6f6a98b-d42d-11f1-aea2-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=252100 Medicinska fakulteta 0 0 0