A beginner's guide to eukaryotic genome annotation

Nat Rev Genet. 2012 Apr 18;13(5):329-42. doi: 10.1038/nrg3174.


The falling cost of genome sequencing is having a marked impact on the research community with respect to which genomes are sequenced and how and where they are annotated. Genome annotation projects have generally become small-scale affairs that are often carried out by an individual laboratory. Although annotating a eukaryotic genome assembly is now within the reach of non-experts, it remains a challenging task. Here we provide an overview of the genome annotation process and the available tools and describe some best-practice approaches.

Publication types

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

MeSH terms

  • Base Sequence
  • Databases, Genetic
  • Eukaryota / genetics*
  • Exons
  • Genome
  • Genomics
  • Humans
  • Introns*
  • Molecular Sequence Annotation / methods*
  • Molecular Sequence Annotation / standards*
  • Molecular Sequence Data
  • Quality Control
  • RNA / genetics
  • Sequence Alignment
  • Software


  • RNA