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Whole-Genome Deep Learning Predicts Chemotherapy Response in Colorectal Cancer.

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Biochemical genetics 📖 저널 OA 14.2% 2022: 0/2 OA 2024: 0/7 OA 2025: 8/52 OA 2026: 8/52 OA 2022~2026 2026 OA Colorectal Cancer Treatments and Stu
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PubMed DOI OpenAlex 마지막 보강 2026-04-30
OpenAlex 토픽 · Colorectal Cancer Treatments and Studies Cancer Genomics and Diagnostics Radiomics and Machine Learning in Medical Imaging

Sadeghi H, Seif F

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Chemotherapy response in colorectal cancer (CRC) exhibits significant heterogeneity, with current clinical predictors failing to capture complex genomic determinants of resistance.

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  • p-value p < 0.001
  • 95% CI 0.89-0.94
  • HR 4.7

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↓ .bib ↓ .ris
APA H. Sadeghi, Fatemeh Seif (2026). Whole-Genome Deep Learning Predicts Chemotherapy Response in Colorectal Cancer.. Biochemical genetics. https://doi.org/10.1007/s10528-026-11368-4
MLA H. Sadeghi, et al.. "Whole-Genome Deep Learning Predicts Chemotherapy Response in Colorectal Cancer.." Biochemical genetics, 2026.
PMID 41964737 ↗

Abstract

Chemotherapy response in colorectal cancer (CRC) exhibits significant heterogeneity, with current clinical predictors failing to capture complex genomic determinants of resistance. We developed a hybrid deep learning framework integrating convolutional neural networks (CNNs) and bidirectional long short-term memory (BiLSTM) networks to analyze whole-genome somatic mutations, evolutionary conservation, chromatin accessibility, and 3D genome architecture in 2,546 TCGA patients. An attention mechanism identified predictive genomic regions. The model achieved an AUC of 0.92 (95% CI: 0.89-0.94) in cross-validation and 0.88 (95% CI: 0.85-0.91) in independent validation, outperforming clinical models (ΔAUC = +0.18, p < 0.001). Key predictors included non-coding variants in TP53, KRAS, and PIK3CA regulatory regions. Triple-positive patients (mutations in all 3 regions) had significantly worse progression-free survival (HR = 4.7, p < 0.001). Our framework enables accurate chemotherapy response prediction and reveals novel non-coding resistance mechanisms, advancing precision oncology in CRC.

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