Opportunities and obstacles for deep learning in biology and medicine

Author:

Ching Travers1ORCID,Himmelstein Daniel S.2ORCID,Beaulieu-Jones Brett K.3ORCID,Kalinin Alexandr A.4ORCID,Do Brian T.5ORCID,Way Gregory P.2ORCID,Ferrero Enrico6ORCID,Agapow Paul-Michael7ORCID,Zietz Michael2ORCID,Hoffman Michael M.8910ORCID,Xie Wei11ORCID,Rosen Gail L.12ORCID,Lengerich Benjamin J.13ORCID,Israeli Johnny14ORCID,Lanchantin Jack15ORCID,Woloszynek Stephen12ORCID,Carpenter Anne E.16ORCID,Shrikumar Avanti17ORCID,Xu Jinbo18ORCID,Cofer Evan M.1920ORCID,Lavender Christopher A.21ORCID,Turaga Srinivas C.22ORCID,Alexandari Amr M.17ORCID,Lu Zhiyong23ORCID,Harris David J.24ORCID,DeCaprio Dave25ORCID,Qi Yanjun15ORCID,Kundaje Anshul1726ORCID,Peng Yifan23ORCID,Wiley Laura K.27ORCID,Segler Marwin H. S.28ORCID,Boca Simina M.29ORCID,Swamidass S. Joshua30ORCID,Huang Austin31ORCID,Gitter Anthony3233ORCID,Greene Casey S.2ORCID

Affiliation:

1. Molecular Biosciences and Bioengineering Graduate Program, University of Hawaii at Manoa, Honolulu, HI, USA

2. Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

3. Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

4. Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA

5. Harvard Medical School, Boston, MA, USA

6. Computational Biology and Stats, Target Sciences, GlaxoSmithKline, Stevenage, UK

7. Data Science Institute, Imperial College London, London, UK

8. Princess Margaret Cancer Centre, Toronto, Ontario, Canada

9. Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada

10. Department of Computer Science, University of Toronto, Toronto, Ontario, Canada

11. Electrical Engineering and Computer Science, Vanderbilt University, Nashville, TN, USA

12. Ecological and Evolutionary Signal-processing and Informatics Laboratory, Department of Electrical and Computer Engineering, Drexel University, Philadelphia, PA, USA

13. Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA, USA

14. Biophysics Program, Stanford University, Stanford, CA, USA

15. Department of Computer Science, University of Virginia, Charlottesville, VA, USA

16. Imaging Platform, Broad Institute of Harvard and MIT, Cambridge, MA, USA

17. Department of Computer Science, Stanford University, Stanford, CA, USA

18. Toyota Technological Institute at Chicago, Chicago, IL, USA

19. Department of Computer Science, Trinity University, San Antonio, TX, USA

20. Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA

21. Integrative Bioinformatics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA

22. Howard Hughes Medical Institute, Janelia Research Campus, Ashburn, VA, USA

23. National Center for Biotechnology Information and National Library of Medicine, National Institutes of Health, Bethesda, MD, USA

24. Department of Wildlife Ecology and Conservation, University of Florida, Gainesville, FL, USA

25. ClosedLoop.ai, Austin, TX, USA

26. Department of Genetics, Stanford University, Stanford, CA, USA

27. Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, Aurora, CO, USA

28. Institute of Organic Chemistry, Westfälische Wilhelms-Universität Münster, Münster, Germany

29. Innovation Center for Biomedical Informatics, Georgetown University Medical Center, Washington, DC, USA

30. Department of Pathology and Immunology, Washington University in Saint Louis, St Louis, MO, USA

31. Department of Medicine, Brown University, Providence, RI, USA

32. Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA

33. Morgridge Institute for Research, Madison, WI, USA

Abstract

Deep learning describes a class of machine learning algorithms that are capable of combining raw inputs into layers of intermediate features. These algorithms have recently shown impressive results across a variety of domains. Biology and medicine are data-rich disciplines, but the data are complex and often ill-understood. Hence, deep learning techniques may be particularly well suited to solve problems of these fields. We examine applications of deep learning to a variety of biomedical problems—patient classification, fundamental biological processes and treatment of patients—and discuss whether deep learning will be able to transform these tasks or if the biomedical sphere poses unique challenges. Following from an extensive literature review, we find that deep learning has yet to revolutionize biomedicine or definitively resolve any of the most pressing challenges in the field, but promising advances have been made on the prior state of the art. Even though improvements over previous baselines have been modest in general, the recent progress indicates that deep learning methods will provide valuable means for speeding up or aiding human investigation. Though progress has been made linking a specific neural network's prediction to input features, understanding how users should interpret these models to make testable hypotheses about the system under study remains an open challenge. Furthermore, the limited amount of labelled data for training presents problems in some domains, as do legal and privacy constraints on work with sensitive health records. Nonetheless, we foresee deep learning enabling changes at both bench and bedside with the potential to transform several areas of biology and medicine.

Funder

Gordon and Betty Moore Foundation

National Institutes of Health

Roy and Diana Vagelos Scholars Program in the Molecular Life Sciences

U.S. National Library of Medicine

National Science Foundation

Natural Sciences and Engineering Research Council of Canada

NSF

Howard Hughes Medical Institute

Publisher

The Royal Society

Subject

Biomedical Engineering,Biochemistry,Biomaterials,Bioengineering,Biophysics,Biotechnology

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