A primer on deep learning in genomics

Nat Genet. 2019 Jan;51(1):12-18. doi: 10.1038/s41588-018-0295-5. Epub 2018 Nov 26.


Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful applications in the fields of regulatory genomics, variant calling and pathogenicity scores. We include general guidance for how to effectively use deep learning methods as well as a practical guide to tools and resources. This primer is accompanied by an interactive online tutorial.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Deep Learning / standards*
  • Genome, Human / genetics*
  • Genomics / methods*
  • Genomics / standards*
  • Humans
  • Machine Learning / standards