Artificial Intelligence in Healthcare

AI, Machine Learning, and Deep and Intelligent Medicine Simplified for Everyone

Academic Edition, Chapter 23 - References/Further Reading


  1. Xu J, Yang P, Xue S, Sharma B, Sanchez-Martin M, Wang F, Beaty KA, Dehan E, Parikh B. Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives. Human Genetics. 2019 Feb 8;138(2):109-24.
  2. Wan N, Weinberg D, Liu TY, Niehaus K, Ariazi EA, Delubac D, Kannan A, White B, Bailey M, Bertin M, Boley N. Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA. BMC cancer. 2019 Dec 1;19(1):832.
  3. Mobadersany P, Yousefi S, Amgad M, Gutman DA, Barnholtz-Sloan JS, Vega JE, Brat DJ, Cooper LA. Predicting cancer outcomes from histology and genomics using convolutional networks. Proceedings of the National Academy of Sciences. 2018 Mar 27;115(13):E2970-9.
  4. Concentriq platform. Proscia. Available from:
  5. Cai L, Wu Y, Gao J. DeepSV: accurate calling of genomic deletions from high-throughput sequencing data using deep convolutional neural network. BMC bioinformatics. 2019 Dec 1;20(1):665.
  6. Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nature reviews genetics. 2015 Mar;16(3):172-83.
  7. Agrebi S, Larbi A. Use of artificial intelligence in infectious diseases. InArtificial Intelligence in Precision Health 2020 Jan 1 (pp. 415-438). Academic Press.
  8. Oh M, Zhang L. DeepMicro: deep representation learning for disease prediction based on microbiome data. Scientific reports. 2020 Apr 7;10(1):1-9.
  9. Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Science translational medicine. 2019 Apr 24;11(489):eaat6177.
  10. Home [Internet]. BostonGene. [cited 2021 Jan 20]. Available from:
  11. Cambridge cancer genomics (Ccg) [Internet]. [cited 2021 Jan 20]. Available from:
  12. Publications [Internet]. Perthera, Inc. [cited 2021 Jan 20]. Available from:
  13. Schmidlen T, Schwartz M, DiLoreto K, Kirchner HL, Sturm AC. Patient assessment of chatbots for the scalable delivery of genetic counseling. Journal of genetic counseling. 2019 Dec;28(6):1166-77.
  14. Home [Internet]. Deep Genomics. [cited 2021 Jan 20]. Available from:
  15. Home page [Internet]. Atomwise. [cited 2021 Jan 20]. Available from:
  16. Data science & artificial intelligence: unlocking new science insights [Internet]. [cited 2021 Jan 20]. Available from:
  17. First CRISPR therapy dosed. Nature Biotechnology. 2020 Apr 1;38(4):382–382.
  18. Rare treatment accelerator [Internet]. Healx. [cited 2021 Jan 20]. Available from:
  19. Tranfaglia MR, Thibodeaux C, Mason DJ, Brown D, Roberts I, Smith R, Guilliams T, Cogram P. Repurposing available drugs for neurodevelopmental disorders: The fragile X experience. Neuropharmacology. 2019 Mar 15;147:74-86.
  20. Intellispace discovery | philips healthcare [Internet]. Philips. [cited 2021 Jan 20]. Available from:
  21. Home - cog-uk consortium [Internet]. [cited 2021 Jan 20]. Available from:
  22. Nextstrain [Internet]. [cited 2021 Jan 20]. Available from:
  23. Dna genetic testing & analysis - 23andme au, de, fr & eu [Internet]. [cited 2021 Jan 20]. Available from:
  24. BenevolentAI | Because it matters [Internet]. [cited 2021 Jan 20]. Available from:
  25. Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, Kosaki K. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. Journal of Human Genetics. 2019 Aug;64(8):789-94.
  26. National institutes of health (Nih) [Internet]. National Institutes of Health (NIH) — All of Us. 2020 [cited 2021 Jan 20]. Available from:
  27. Oecd principles on artificial intelligence - organisation for economic co-operation and development [Internet]. [cited 2021 Jan 20]. Available from:
  28. Accelerating america’s leadership in artificial intelligence [Internet]. The White House. 2019 [cited 2021 Jan 20]. Available from:
  29. Dias R, Torkamani A. Artificial intelligence in clinical and genomic diagnostics. Genome Medicine. 2019 Dec;11(1):1-2.
  30. Jin XL, Zhang M, Zhou Z, Yu X. Application of a Blockchain Platform to Manage and Secure Personal Genomic Data: A Case Study of LifeCODE. ai in China. Journal of medical Internet research. 2019;21(9):e13587.