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Article

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

Genome medicine - 7 Jul 2023

Sanjaya Prima, Maljanen Katri, Katainen Riku, Waszak Sebastian M, Aaltonen Lauri A, Stegle Oliver, Korbel Jan O, Pitkänen Esa

Abstract excerpt

BACKGROUND: Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutation burden such as many paediatric tumours. Moreover, the ability to leverage deep representation learning in discovery of tumour entities remains unknown. METHODS: We introduce here...

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Identifiers

PMID: 37420249
DOI: 10.1186/s13073-023-01204-4
PMCID: PMC10326961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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