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Article

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample.

Genome biology - 7 Jan 2022

Sahraeian Sayed Mohammad Ebrahim, Fang Li Tai, Karagiannis Konstantinos, Moos Malcolm, Smith Sean, Santana-Quintero Luis, Xiao Chunlin, Colgan Michael, Hong Huixiao, Mohiyuddin Marghoob, Xiao Wenming

Abstract excerpt

BACKGROUND: Accurate detection of somatic mutations is challenging but critical in understanding cancer formation, progression, and treatment. We recently proposed NeuSomatic, the first deep convolutional neural network-based somatic mutation detection approach, and demonstrated performance advantages on in silico data. RESULTS: In this study, we use the first comprehensive and well-characterized somatic...

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Identifiers

PMID: 34996510
DOI: 10.1186/s13059-021-02592-9
PMCID: PMC8740374

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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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