50 Comparative evaluation of long- and short-read methylation-aware sequencing for CNS tumour diagnostics

Abstract excerpt

Abstract Introduction DNA methylation–based classification has transformed the diagnosis of central nervous system (CNS) tumours. However, methylation profiling alone is insufficient for definitive diagnosis and must be integrated with genomic alterations such as single nucleotide variants, structural variants, and gene fusions. Molecular diagnostics are therefore moving towards unified sequencing approaches capab...

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• Cancer Genomics and Diagnostics
• Cerebrovascular and genetic disorders
• Genomics and Rare Diseases

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Literature Corpus work

6dc42cf6-eee9-5bf3-a80d-49d18e3be9a5

DOI

10.1093/neuonc/noag172.020