Using deep learning to identify translational research in genomic medicine beyond bench to bedside
Open accessAbstract
Tracking scientific research publications on the evaluation, utility and implementation of genomic applications is critical for the translation of basic research to impact clinical and population health. In this work, we utilize state-of-the-art machine learning approaches to identify translational research in genomics beyond bench to bedside from the biomedical literature. We apply the convolutional neural networks (CNNs) and support vector machines (SVMs) to the bench/bedside article classification on the weekly manual annotation data of the Public Health Genomics Knowledge Base database. Both classifiers employ salient features to determine the probability of curation-eligible publications, which can effectively reduce the workload of manual triage and curation process. We applied the CNNs and SVMs to an independent test set (n = 400), and the models achieved the F-measure of 0.80 and 0.74, respectively. We further tested the CNNs, which perform better results, on the routine annotation pipeline for 2 weeks and significantly reduced the effort and retrieved more appropriate research articles. Our approaches provide direct insight into the automated curation of genomic translational research beyond bench to bedside. The machine learning classifiers are found to be helpful for annotators to enhance the efficiency of manual curation.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Several computational methods have been proposed as an effective alternative to keyword-based query methods for literature recommendation.
“Several computational methods have been proposed as an effective alternative to keyword-based query methods for literature recommendation.”
From LitSuggest: a web-based system for literature recommendation and curation using machine learning (2021) · cites this paper as [14]
The Introduction and Utility assessment (pages not specified) describe computational methods for classifying and prioritizing relevant articles. They do not establish these methods as alternatives to keyword-based queries: in the assessed workflow, PubMed queries still retrieve articles, and the classifier ranks the results for review. The paper also concerns genomic-research curation rather than literature recommendation generally. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
The Nature of Statistical Learning Theory
Vapnik, V. N. (1995) · doi:10.1007/978-1-4757-2440-0 · Cited by 39,138 · see citing works
Convolutional Neural Networks for Sentence Classification
Kim, Y. (2014) · Proceedings of the 2014 Conference on Empirical Methods in Natural Language Processing (EMNLP) · doi:10.3115/v1/d14-1181 · Cited by 14,831 · see citing works
LIBLINEAR: A Library for Large Linear Classification
Fan, R.-E., Chang, K., Hsieh, C., Xiang-rui, W., & Lin, C. (2008) · doi:10.5555/1390681.1442794 · Cited by 6,680 · see citing works
Proceedings of the 26th International Conference on Neural Information Processing Systems
Burges, C. J. C., Bottou, L., Welling, M., Zoubin Ghahramani, A., & Weinberger, K. Q. (2013) · Cited by 1,323 · see citing works
Convolutional Neural Networks for Sentence ClassificationPreprint
Kim, Y. (2014) · arXiv (Cornell University) · doi:10.48550/arxiv.1408.5882 · Cited by 1,112 · see citing works
Interactive machine learning for health informatics: when do we need the human-in-the-loop?
Holzinger, A. (2016) · Brain Informatics · doi:10.1007/s40708-016-0042-6 · Cited by 906 · see citing works
Proceedings of the 32nd annual meeting on Association for Computational Linguistics -
Pustejovsky, J. (1994) · doi:10.3115/981732 · Cited by 732 · see citing works
Khoury, M. J., GWINN, M. L., Yoon, P. W., Dowling, N. F., Moore, C. A., & Bradley, L. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e31815699d0 · Cited by 708 · see citing works
Self-citationProceedings of the 12th USENIX conference on Operating Systems Design and Implementation
Keeton, K., Association for Computing Machinery-Digital Library, ACM Special Interest Group on Operating Systems, & SIGs, A. (2016) · Cited by 317 · see citing works
Goebel, R., Chander, A., Holzinger, K., Lecue, F., Akata, Z., Stumpf, S., Kieseberg, P., & Holzinger, A. (2018) · Lecture Notes in Computer Science · doi:10.1007/978-3-319-99740-7_21 · Cited by 259 · see citing works
Very Deep Convolutional Networks for Natural Language Processing.Preprint
Conneau, A., Schwenk, H., Barrault, L., & LeCun, Y. (2016) · arXiv (Cornell University) · Cited by 214 · see citing works
The current state of implementation science in genomic medicine: opportunities for improvement
Roberts, M. C., Kennedy, A. E., Chambers, D., & Khoury, M. J. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.210 · Cited by 141 · see citing works
Self-citationOn expert curation and scalability: UniProtKB/Swiss-Prot as a case study
Poux, S., Arighi, C. N., Magrane, M., Bateman, A., Wei, C.-H., Lu, Z., Boutet, E., Bye-A-Jee, H., Famiglietti, M. L., Roechert, B., et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx439 · Cited by 135 · see citing works
Self-citationThe neXtProt knowledgebase on human proteins: current status
Gaudet, P., Michel, P.-A., Zahn‐Zabal, M., Cusin, I., Duek, P. D., Evalet, O., Gateau, A., Gleizes, A., Pereira, M., Teixeira, D., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1178 · Cited by 88 · see citing works
MeSH Now: Automatic MeSH indexing at PubMed scale via learning to rank
Mao, Y., & Lu, Z. (2017) · Journal of Biomedical Semantics · doi:10.1186/s13326-017-0123-3 · Cited by 87 · see citing works
Self-citationLee, K., Famiglietti, M. L., McMahon, A., Wei, C.-H., MacArthur, J. A. L., Poux, S., Breuza, L., Bridge, A., Cunningham, F., Xenarios, I., et al. (2018) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1006390 · Cited by 47 · see citing works
Self-citationSurkis, A., Hogle, J. A., DiazGranados, D., Hunt, J. D., Mazmanian, P. E., Connors, E. R., Westaby, K., Whipple, E. C., Adamus, T., Mueller, M., et al. (2016) · Journal of Translational Medicine · doi:10.1186/s12967-016-0992-8 · Cited by 46 · see citing works
Horizon scanning for translational genomic research beyond bench to bedside
Clyne, M., Schully, S. D., Dotson, W. D., Douglas, M. P., GWINN, M. L., Kolor, K., Wulf, A., Bowen, M., & Khoury, M. J. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.184 · Cited by 29 · see citing works
Self-citationA knowledge base for tracking the impact of genomics on population health
Yu, W., GWINN, M. L., Dotson, W. D., Green, R. F., Clyne, M., Wulf, A., Bowen, S. M., Kolor, K., & Khoury, M. J. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.63 · Cited by 21 · see citing works
Self-citationIslamaj, R., Chatr‐aryamontri, A., Kim, S., Wei, C.-H., Peng, Y., Comeau, D. C., & Lu, Z. (2017) · doi:10.18653/v1/w17-2321 · Cited by 15 · see citing works
Self-citationKim, S., Kim, W., Wei, C.-H., Lu, Z., & Wilbur, W. J. (2012) · Database · doi:10.1093/database/bas042 · Cited by 14 · see citing works
Self-citationDing, R., Boutet, E., Lieberherr, D., Schneider, M., Tognolli, M., Wu, C. H., Vijay‐Shanker, K., & Arighi, C. N. (2017) · Database · doi:10.1093/database/bax081 · Cited by 8 · see citing works
Luo, L., Yang, Z., Lin, H., & Wang, J. (2018) · Database · doi:10.1093/database/bay097 · Cited by 5 · see citing works
Assisting document triage for human kinome curation via machine learning
Hsu, Y.-Y., Wei, C.-H., & Lu, Z. (2018) · Database · doi:10.1093/database/bay091 · Cited by 3 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
LitSuggest: a web-based system for literature recommendation and curation using machine learning
Allot, A., Lee, K., Chen, Q., Luo, L., & Lu, Z. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab326 · Cited by 61 · see citing works
“Their effectiveness has been demonstrated in multiple publications (12–14), showing that machine learning and natural language processing methods (15,16) allow database curators to retrieve and cu-rate more accurately and efficiently relevant literature, than traditional keyword-based PubMed search…”
BackgroundSelf-citationBernstam, E. V., Shireman, P. K., Meric‐Bernstam, F., Zozus, M. N., Jiang, X., Brimhall, B. B., Windham, A. K., Schmidt, S., Visweswaran, S., Ye, Y., et al. (2021) · Clinical and Translational Science · doi:10.1111/cts.13175 · Cited by 54 · see citing works
Methods for identifying biomedical translation: a systematic review.
Padilla‐Cabello, J., Santisteban‐Espejo, A., Heradio, R., Cobo, M. J., Martín‐Piedra, M. Á., & Moral-Muñoz, J. A. (2022) · PubMed Central · Cited by 6 · see citing works
Lee, S., Kwon, J.-H., Kim, D., & Kim, E. (2023) · ICT Express · doi:10.1016/j.icte.2023.08.006 · Cited by 3 · see citing works
Design Models for AI in Public Health
Wu, M. (2026) · Springer eBooks · doi:10.1007/978-3-032-15872-7_3
Trends of Open-Source Tools and Frameworks for AI Drug Design
Mishra, S. K., Mukhia, P., Gurung, K., Rai, P., Roy, A., Chhetri, T., & Georrge, J. J. (2026) · Springer eBooks · doi:10.1007/978-3-032-20428-8_11
- Authors
- Hsu, Y.-Y., Clyne, M., Wei, C.-H., Khoury, M. J., & Lu, Z.
- Affiliations
- National Institutes of Health (US)
- National Cancer Institute (US)
- Centers for Disease Control and Prevention (US)
- Corresponding author
- Khoury, Muin J
- Lu, Zhiyong
- Venue
- Database
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-01-01
- Volume
- 2019
- ISSN
- 1758-0463 (ISSN-L)
- PMC
- PMC6367517
- OpenAlex
- W2914293296
- Cited by
- 6
- References
- 23
- Citations by year
- 2026: 2 · 2023: 1 · 2022: 1 · 2021: 2
- FWCI
- 0.25
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- public-domain
- Locations
- Database (publishedVersion, public-domain)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Intramural Research Programs of the National Institutes of Health, National Library of Medicine
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Physical Sciences › Computer Science › Artificial Intelligence › Text and Document Classification Technologies
- Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
- Keywords
- translational research, genomic medicine, bench-to-bedside, public health genomics, convolutional neural networks, support vector machine, annotation workload reduction
- MeSH terms
- Deep Learning, ROC Curve, Statistics as Topic, Task Performance and Analysis, Reproducibility of Results, Neural Networks, Computer, Genomics, Translational Research, Biomedical, Support Vector Machine
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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review