A roadmap for multi-omics data integration using deep learning
Open accessAbstract
High-throughput next-generation sequencing now makes it possible to generate a vast amount of multi-omics data for various applications. These data have revolutionized biomedical research by providing a more comprehensive understanding of the biological systems and molecular mechanisms of disease development. Recently, deep learning (DL) algorithms have become one of the most promising methods in multi-omics data analysis, due to their predictive performance and capability of capturing nonlinear and hierarchical features. While integrating and translating multi-omics data into useful functional insights remain the biggest bottleneck, there is a clear trend towards incorporating multi-omics analysis in biomedical research to help explain the complex relationships between molecular layers. Multi-omics data have a role to improve prevention, early detection and prediction; monitor progression; interpret patterns and endotyping; and design personalized treatments. In this review, we outline a roadmap of multi-omics integration using DL and offer a practical perspective into the advantages, challenges and barriers to the implementation of DL in multi-omics data.
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Deep learning has been utilized for integrating multi-omics datasets and performing different downstream tasks.
“Deep learning has been utilized for integrating multi-omics datasets and performing different downstream tasks [111].”
From Challenges in AI-driven Biomedical Multimodal Data Fusion and Analysis (2025) · cites this paper as [111]
Cites
Definitions, methods, and applications in interpretable machine learning
Murdoch, W. J., Singh, C., Kumbier, K., Abbasi-Asl, R., & Yu, B. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1900654116 · Cited by 2,167 · see citing works
Deep learning-based multi-omics integration robustly predicts survival in liver cancer
Chaudhary, K., Poirion, O. B., Lu, L., & Garmire, L. X. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-0853 · Cited by 1,091 · see citing works
Machine learning and integrative analysis of biomedical big data
Mirza, B., Wang, W., Wang, J., Choi, H., Chung, N. C., & Ping, P. (2019) · Genes · doi:10.3390/genes10020087 · Cited by 380 · see citing works
SALMON: survival analysis learning with multi-omics neural networks on breast cancer
Huang, Z., Zhan, X., Xiang, S., Johnson, T. S., Helm, B., Yu, C. Y., Zhang, J., Salama, P., Rizkalla, M., Han, Z., et al. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00166 · Cited by 262 · see citing works
A Review of Integrative Imputation for Multi-Omics Datasets
Song, M., Greenbaum, J., Luttrell, J., Zhou, W., Wu, C., Shen, H., Gong, P., Zhang, C., & Deng, H.-W. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.570255 · Cited by 127 · see citing works
Hao, J., Kim, Y., Mallavarapu, T., Oh, J. H., & Kang, M. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0624-2 · Cited by 82 · see citing works
Self-citationSeal, D. B., Das, V., Goswami, S., & De, R. K. (2020) · Genomics · doi:10.1016/j.ygeno.2020.03.021 · Cited by 69 · see citing works
Ning, Z., Pan, W., Chen, Y., Xiao, Q., Zhang, X., Luo, J., Wang, J., & Zhang, Y. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa056 · Cited by 53 · see citing works
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Acosta, J. N., Falcone, G. J., Rajpurkar, P., & Topol, E. J. (2022) · Nature Medicine · doi:10.1038/s41591-022-01981-2 · Cited by 1,365 · see citing works
Missing data in multi-omics integration: Recent advances through artificial intelligence
Flores, J. E., Claborne, D. M., Weller, Z. D., Webb-Robertson, B.-J. M., Waters, K. M., & Bramer, L. M. (2023) · Frontiers in Artificial Intelligence · doi:10.3389/frai.2023.1098308 · Cited by 181 · see citing works
Challenges in AI-driven Biomedical Multimodal Data Fusion and Analysis
Liu, J., Cen, X., Yi, C., Wang, F.-A., Ding, J., Cheng, J., Wu, Q., Gai, B., Zhou, Y., He, R., et al. (2025) · Genomics, Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzaf011 · Cited by 75 · see citing works
A review of multimodal deep learning methods for genomic-enabled prediction in plant breeding
Montesinos-López, O. A., Chavira-Flores, M., Kiasmiantini, Crespo-Herrera, L., Saint Piere, C., Li, H., Fritsche-Neto, R., Al-Nowibet, K., Montesinos-López, A., & Crossa, J. (2024) · GENETICS · doi:10.1093/genetics/iyae161 · Cited by 47 · see citing works
Artificial intelligence for dementia genetics and omics
Bettencourt, C., Skene, N., Bandres‐Ciga, S., Anderson, E., Winchester, L. M., Foote, I. F., Schwartzentruber, J., Botia, J. A., Nalls, M., Singleton, A., et al. (2023) · Alzheimer's & Dementia · doi:10.1002/alz.13427 · Cited by 30 · see citing works
- Authors
- Kang, M., Ko, E., & Mersha, T. B.
- Affiliations
- University of Nevada, Las Vegas (US)
- Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA
- Venue
- Briefings in Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2021-11-12
- Volume
- 23
- Issue
- 1
- ISSN
- 1467-5463 (ISSN-L)
- 1477-4054
- PMC
- PMC8769688
- OpenAlex
- W3213224786
- Cited by
- 389
- References
- 8
- Citations by year
- 2026: 79 · 2025: 121 · 2024: 106 · 2023: 58 · 2022: 25
- FWCI
- 5.04
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Briefings in Bioinformatics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01 HL132344)
- Institute for Information and Communications Technology Planning and Evaluation (2019-0-01601)
- Ministry of Science and ICT
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Machine Learning in Bioinformatics
- Physical Sciences › Computer Science › Computational Theory and Mathematics › Computational Drug Discovery Methods
- Keywords
- multi-omics integration, deep learning, next-generation sequencing, disease mechanisms, endotyping, personalized treatment, implementation barriers
- MeSH terms
- Deep Learning, Algorithms, Genomics, High-Throughput Nucleotide Sequencing
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