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DIANA: An integrated pipeline for analysis of long-read whole-genome sequencing data for molecular neuropathology

2026-03-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Summary</h4> Central nervous system (CNS) tumor diagnosis requires comprehensive genomic profiling including DNA-methylation classification, copy-number variants (CNV), gene fusion analysis, small variant detection and MGMT promoter methylation status. Long-read sequencing platforms such as nanopore sequencing by Oxford Nanopore Technologies and SMRTseq by PacBio can capture all these in a...

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Literature Corpus work: 11cf9dcd-918e-5995-9189-a0c7e3426078
DOI: 10.64898/2026.03.25.714119

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