Navigating the pitfalls of applying machine learning in genomics

Nat Rev Genet. 2022 Mar;23(3):169-181. doi: 10.1038/s41576-021-00434-9. Epub 2021 Nov 26.


The scale of genetic, epigenomic, transcriptomic, cheminformatic and proteomic data available today, coupled with easy-to-use machine learning (ML) toolkits, has propelled the application of supervised learning in genomics research. However, the assumptions behind the statistical models and performance evaluations in ML software frequently are not met in biological systems. In this Review, we illustrate the impact of several common pitfalls encountered when applying supervised ML in genomics. We explore how the structure of genomics data can bias performance evaluations and predictions. To address the challenges associated with applying cutting-edge ML methods to genomics, we describe solutions and appropriate use cases where ML modelling shows great potential.

Publication types

  • Review

MeSH terms

  • Animals
  • Genomics / methods*
  • Genomics / standards
  • Genomics / trends
  • Humans
  • Machine Learning* / standards
  • Models, Statistical
  • Software