Enhancer Predictions and Genome-Wide Regulatory Circuits

Michael A. Beer, Dustin Shigaki, Danwei Huangfu

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


Spatiotemporal control of gene expression during development requires orchestrated activities of numerous enhancers, which are cis-regulatory DNA sequences that, when bound by transcription factors, support selective activation or repression of associated genes. Proper activation of enhancers is critical during embryonic development, adult tissue homeostasis, and regeneration, and inappropriate enhancer activity is often associated with pathological conditions such as cancer. Multiple consortia lsqbe.g., the Encyclopedia of DNA Elements (ENCODE) Consortium and National Institutes of Health Roadmap Epigenomics Mapping Consortiumrsqb and independent investigators have mapped putative regulatory regions in a large number of cell types and tissues, but the sequence determinants of cell-specific enhancers are not yet fully understood. Machine learning approaches trained on large sets of these regulatory regions can identify core transcription factor binding sites and generate quantitative predictions of enhancer activity and the impact of sequence variants on activity. Here, we review these computational methods in the context of enhancer prediction and gene regulatory network models specifying cell fate.

Original languageEnglish (US)
Pages (from-to)37-54
Number of pages18
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Aug 31 2020
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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