A new era in functional genomics screens

Nat Rev Genet. 2022 Feb;23(2):89-103. doi: 10.1038/s41576-021-00409-w. Epub 2021 Sep 20.


The past 25 years of genomics research first revealed which genes are encoded by the human genome and then a detailed catalogue of human genome variation associated with many diseases. Despite this, the function of many genes and gene regulatory elements remains poorly characterized, which limits our ability to apply these insights to human disease. The advent of new CRISPR functional genomics tools allows for scalable and multiplexable characterization of genes and gene regulatory elements encoded by the human genome. These approaches promise to reveal mechanisms of gene function and regulation, and to enable exploration of how genes work together to modulate complex phenotypes.

Publication types

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

MeSH terms

  • CRISPR-Cas Systems*
  • Gene Editing / methods*
  • Gene Expression Profiling / methods
  • Gene Regulatory Networks / genetics
  • Genetic Association Studies / methods
  • Genome, Human / genetics*
  • Genome-Wide Association Study / methods*
  • Genomics / methods*
  • Genomics / trends
  • Humans
  • Polymorphism, Single Nucleotide*