The DOI matches its Crossref record; 130 of the 130 references it cites were found in a registry or an index.
Deep Learning in Pharmacogenomics: From Gene Regulation to Patient Stratification
Open accessAbstract
This Perspective provides examples of current and future applications of deep learning in pharmacogenomics, including: identification of novel regulatory variants located in noncoding domains of the genome and their function as applied to pharmacoepigenomics; patient stratification from medical records; and the mechanistic prediction of drug response, targets and their interactions. Deep learning encapsulates a family of machine learning algorithms that has transformed many important subfields of artificial intelligence over the last decade, and has demonstrated breakthrough performance improvements on a wide range of tasks in biomedicine. We anticipate that in the future, deep learning will be widely used to predict personalized drug response and optimize medication selection and dosing, using knowledge extracted from large and complex molecular, epidemiological, clinical and demographic datasets.
Overview
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
Verification
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.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
LeCun, Y., Bengio, Y., & Hinton, G. (2015) · Nature · doi:10.1038/nature14539 · Cited by 84,126
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
A survey on deep learning in medical image analysis
Litjens, G., Kooi, T., Bejnordi, B. E., Setio, A. A. A., Ciompi, F., Ghafoorian, M., van der Laak, J. A. W. M., van Ginneken, B., & Sánchez, C. I. (2017) · Medical Image Analysis · doi:10.1016/j.media.2017.07.005 · Cited by 15,332
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
Saito, T., & Rehmsmeier, M. (2015) · PLOS ONE · doi:10.1371/journal.pone.0118432 · Cited by 5,309
Predicting the future - big data, machine learning, and clinical medicine
Obermeyer, Z., & Emanuel, E. J. (2016) · New England Journal of Medicine · doi:10.1056/nejmp1606181 · Cited by 3,652
MoleculeNet: a benchmark for molecular machine learning
Wu, Z., Ramsundar, B., Feinberg, E. N., Gomes, J., Geniesse, C., Pappu, A. S., Leswing, K., & Pande, V. (2018) · Chemical Science · doi:10.1039/c7sc02664a · Cited by 3,107
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
Alipanahi, B., Delong, A., Weirauch, M. T., & Frey, B. J. (2015) · Nature Biotechnology · doi:10.1038/nbt.3300 · Cited by 2,873
Learning Important Features Through Propagating Activation Differences
Shrikumar, A., Greenside, P., & Kundaje, A. (2017) · arXiv · doi:10.48550/arxiv.1704.02685 · Cited by 2,761
Flagged first, then by citations
Research works printed but not linked: 2
- Kalinin AA , PalanimalaiS , DinovID . SOCRAT platform design: a web architecture for interactive visual analytics applications . In : Proceedings of the 2nd Workshop on Human-In-the-Loop Data Analytics . ACM New York , NY, USA , 1 – 6 ( 2017 ).
- 10.1101/165183 · DOI
Cited by
Sorted by citations
Items 201–207 of 207
Magnitov, M. D., van der Weide, R. H., Witvliet, A. F., Hernández-Quiles, M., Martinovic, M., Teunissen, H., Braccioli, L., Vermeulen, M., & de Wit, E. (2026) · Nature Communications · doi:10.1038/s41467-026-72392-x
1Chapter 1 Bridging Biotechnology and Artificial Intelligence
Bansal, P., Duhan, P., Verma, K., Sharma, A., Sharma, A. K., & Verma, P. (2026) · De Gruyter eBooks · doi:10.1515/9783112214275-001
Ethical issues of artificial intelligence in biomedical applications
Chakraborty, S. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-43934-6.00037-7
Danishuddin, Haque, M. A., Madhukar, G., Khan, S., Khan, S. N., & Kim, J.-J. (2026) · Biotechnology Advances · doi:10.1016/j.biotechadv.2026.109040 · Cited by 1
Artificial intelligence emergence in nanomedicine, pharmacogenomics and biotechnology
Dave, K., Joshi, S., & Shelat, R. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-40338-5.00009-3
AI in Drug Discovery and Pharmacology
Thoker, Z. A., & Marwaha, L. (2026) · Advances in computational intelligence and robotics book series · doi:10.4018/979-8-3373-8562-4.ch002
Explainable Artificial Intelligence for RNA–RNA Interaction Models
Ganesh, S., Parthiban, S. J., & Varadarajan, S. (2026) · Methods in molecular biology · doi:10.1007/978-1-0716-5567-2_20
Metadata
- Authors
- Kalinin, A. A., Higgins, G. A., Reamaroon, N., Soroushmehr, S., Allyn-Feuer, A., Dinov, I. D., Najarian, K., & Athey, B. D.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Athey, Brian D
- Venue
- Pharmacogenomics
- Publisher
- Informa UK Limited
- Published
- 2018-04-26
- Volume
- 19
- Issue
- 7
- Pages
- 629-650
- ISSN
- 1462-2416 (ISSN-L)
- 1744-8042
- PMC
- PMC6022084
- OpenAlex
- W2784341656
- Cited by
- 207
- References
- 120
- Citations by year
- 2026: 13 · 2025: 26 · 2024: 23 · 2023: 21 · 2022: 35 · 2021: 36 · 2020: 21 · 2019: 17 · 2018: 13
- FWCI
- 4.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pharmacogenomics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- arXiv (Cornell University) (submittedVersion)
- arXiv (Cornell University)
- Funders
- National Institutes of Health (P20 NR015331, U54 EB020406, P50 NS091856, P30 DK089503, P30 AG053760, T32 GM070449)
- National Science Foundation (1734853, 1636840, 1416953, 0716055, 1023115)
- Elsie Andresen Fiske Research Fund
- Topics
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Drug Discovery › Computational Drug Discovery Methods
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- deep learning, gene expression regulation, regulatory variants, non-coding genome, pharmacoepigenomics, patient stratification, electronic health records, drug response prediction, drug-target interactions
- MeSH terms
- Deep Learning, Algorithms, Humans, Pharmacogenetics, Neural Networks, Computer, Models, Educational, Databases as Topic
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