Article

Translating clinical gene sequencing into a foundational representation of tumor subtype

2025-09-09

Abstract excerpt

While gene sequencing is routine in cancer care, translating sequences into treatment decisions remains a challenge. Here we introduce MutationProjector, an AI foundation model that transforms tumor mutation profiles into a compact representation of cancer subtype, with broad implications for diagnosis and therapy. MutationProjector is pre-trained by integrating genomic alterations from >30,000 tumors with extensi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0a27da4c-d455-57a6-985f-5009ba300c0c
DOI: 10.1101/2025.09.08.674723

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Translating clinical gene sequencing into a foundational representation of tumor subtypeDOI 10.1101/2025.09.08.674723Read

Phenotypic inference from sparse tumor genomes informs an explainable deep-learning model for cancer prognosisSemantic proximity Read

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtypingSemantic proximity Read

Cancer subtype identification using somatic mutation dataSemantic proximity Read

OncoBERT: Context-Aware Modeling of Somatic Mutations for Precision OncologySemantic proximity Read

Pan-cancer tumour classification and risk stratification from whole-genome somatic variants via dual-task representation learningSemantic proximity Read

Deep Learning Model for Tumor Type Prediction using Targeted Clinical Genomic Sequencing DataSemantic proximity Read

Cancer subtype identification using somatic mutation data.Semantic proximity Read

A Foundation Model for the Cancer GenomeSemantic proximity Read

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

DeepGraphMut: A graph-based deep learning method for cancer prognosis using somatic mutation profileSemantic proximity Read

A deep learning solution to predict tumor mutational status : an evaluation as a first-line diagnostic toolSemantic proximity Read

NetNorM: Capturing cancer-relevant information in somatic exome mutation data with gene networks for cancer stratification and prognosis.Semantic proximity Read