PreprintCited by 36Bioinformatics and Genomic NetworksComputational Drug Discovery MethodsCancer Genomics and Diagnostics

Transformer-based deep learning integrates multi-omic data with cancer pathways

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Cai, Zhaoxiang, Poulos, Rebecca C., Aref, Adel, Robinson, Phillip J., Reddel, Roger R., Zhong, Qing·2022·Cancer Research Communications

Preprint — published as 10.1158/2767-9764.crc-24-0285 · Paper page

Abstract

Multi-omic data analysis incorporating machine learning has the potential to significantly improve cancer diagnosis and prognosis. Traditional machine learning methods are usually limited to omic measurements, omitting existing domain knowledge, such as the biological networks that link molecular entities in various omic data types. Here we develop a Transformer-based explainable deep learning model, DeePathNet, which integrates cancer-specific pathway information into multi-omic data analysis. Using a variety of big datasets, including ProCan-DepMapSanger, CCLE, and TCGA, we demonstrate and validate that DeePathNet outperforms traditional methods for predicting drug response and classifying cancer type and subtype. Combining biomedical knowledge and state-of-the-art deep learning methods, DeePathNet enables biomarker discovery at the pathway level, maximizing the power of data-driven approaches to cancer research. DeePathNet is available on GitHub at https://github.com/CMRI-ProCan/DeePathNet . Highlights: DeePathNet integrates biological pathways for enhanced cancer analysis. DeePathNet utilizes Transformer-based deep learning for superior accuracy. DeePathNet outperforms existing models in drug response prediction. DeePathNet enables pathway-level biomarker discovery in cancer research.

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Authors
Cai, Z., Poulos, R. C., Aref, A., Robinson, P. J., Reddel, R. R., & Zhong, Q.
Affiliations
  • Children's Medical Research Institute (AU)
  • UNSW Sydney (AU)
  • The University of Sydney (AU)
Corresponding author
Zhong, Qing
Venue
Cancer Research Communications
Publisher
openRxiv
Published
2022-10-31
Volume
4
Issue
12
Pages
3151-3164
ISSN
2767-9764 (ISSN-L)
OpenAlex
W4404270506
Cited by
36
References
1
Citations by year
2026: 15 · 2025: 17 · 2024: 2 · 2023: 2
FWCI
4.63
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Cancer Research Communications (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Children's Medical Research
  • David and Elaine Potter Foundation
  • European Commission (H2020 SC1, HORIZON2020, H2020, 826121)
  • Australian Cancer Research Foundation (2017/TPG001, REG171150)
  • National Breast Cancer Foundation (IIRS-18-164)
  • Cancer Institute NSW (2021/ CBG0002, REG171150), (2017/TPG001)
  • University of Sydney
  • NSW Ministry of Health (CMP-01)
  • Horizon 2020 Framework Programme (H2020- SC1-DTH-2018-1, H2020-SC1, 826121)
  • Medical Research Council
  • National Health and Medical Research Council (1138536, 2000855, H2020-SC1-DTH-2018-1, 1170739, 826121)
  • Cancer Council NSW (IG 18‐01)
  • National Cancer Institute
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Physical Sciences › Computer Science › Computational Theory and Mathematics › Computational Drug Discovery Methods
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
multiomic data integration, cancer pathways, transformer-based deep learning, explainable deep learning, drug response prediction, cancer subtyping, biological networks, cancer genomics, Cancer Cell Line Encyclopedia, TCGA
MeSH terms
Deep Learning, Humans, Neoplasms, Biomarkers, Tumor, Computational Biology

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