Article

RNAsum: a tool for personalised genome and transcriptome interpretation for improved cancer diagnostics

2025-01-12

Abstract excerpt

<h4>Background</h4> The integration of whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS) has revolutionized cancer diagnostics by enabling comprehensive molecular profiling of tumours. WGS uncovers genomic alterations such as single nucleotide variants, structural variants, and copy number changes, whereas WTS reveals their functional consequences through expression profiles and fusion detect...

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Literature Corpus work: 8382b27b-2091-5faf-92d4-51dc62060a0e
DOI: 10.1101/2025.01.10.24319650

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