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.
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- 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 · 2017: 1 · 2013: 1
- 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
- Physical Sciences › Computer Science › Computational Theory and Mathematics › 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
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