Incorporating biological structure into machine learning models in biomedicine
Open accessAbstract
In biomedical applications of machine learning, relevant information often has a rich structure that is not easily encoded as real-valued predictors. Examples of such data include DNA or RNA sequences, gene sets or pathways, gene interaction or coexpression networks, ontologies, and phylogenetic trees. We highlight recent examples of machine learning models that use structure to constrain model architecture or incorporate structured data into model training. For machine learning in biomedicine, where sample size is limited and model interpretability is crucial, incorporating prior knowledge in the form of structured data can be particularly useful. The area of research would benefit from performant open source implementations and independent benchmarking efforts.
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Single-cell RNA sequencing data are suitable for graph representation learning to model cellular differential processes and disease states.
“Single-cell RNA sequencing (scRNA-seq) data lend themselves to graph representation learning to model cellular differential processes [136, 155] and disease states [140].”
From Graph representation learning in biomedicine and healthcare (2022) · cites this paper as [136]
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Gundogdu, P., Loucera, C., Álamo-Álvarez, I., Dopazo, J., & Nepomuceno, I. (2022) · DIGITAL.CSIC (Spanish National Research Council (CSIC)) · doi:10.6084/m9.figshare.17798457
Special Issue “Machine Learning and Bioinformatics in Human Health and Disease 2nd Edition”
Leiherer, A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27188005
Zhu, Z., Li, X., Meng, Q., Deng, J., & Lin, M. (2026) · Agronomy · doi:10.3390/agronomy16191959
- Authors
- Crawford, J., & Greene, C. S.
- Affiliations
- University of Pennsylvania (US)
- Alex's Lemonade Stand Foundation (US)
- Corresponding author
- Greene, Casey S
- Venue
- Current Opinion in Biotechnology
- Publisher
- Elsevier BV
- Published
- 2020-06
- Volume
- 63
- Pages
- 126-134
- ISSN
- 0958-1669 (ISSN-L)
- PMC
- PMC7308204
- OpenAlex
- W2980813077
- Cited by
- 41
- References
- 61
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 9 · 2023: 2 · 2022: 6 · 2021: 9 · 2020: 5
- FWCI
- 0.55
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Current Opinion in Biotechnology (publishedVersion, cc-by)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion, cc-by)
- arXiv (Cornell University) (submittedVersion)
- arXiv (Cornell University) (cc-by)
- Funders
- Gordon and Betty Moore Foundation
- National Institutes of Health
- Alex's Lemonade Stand Foundation for Childhood Cancer
- 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
- structured data, biological structures, machine learning models, prior knowledge incorporation, gene interaction networks, co-expression network, ontology (information science), phylogenetic tree, model interpretability, small sample size, benchmarking, open source software
- MeSH terms
- Machine Learning, Phylogeny
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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