Steady progress and recent breakthroughs in the accuracy of automated genome annotation

Nat Rev Genet. 2008 Jan;9(1):62-73. doi: 10.1038/nrg2220.


The sequencing of large, complex genomes has become routine, but understanding how sequences relate to biological function is less straightforward. Although much attention is focused on how to annotate genomic features such as developmental enhancers and non-coding RNAs, there is still no higher eukaryote for which we know the correct exon-intron structure of at least one ORF for each gene. Despite this uncomfortable truth, genome annotation has made remarkable progress since the first drafts of the human genome were analysed. By combining several computational and experimental methods, we are now closer to producing complete and accurate gene catalogues than ever before.

Publication types

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

MeSH terms

  • Automation*
  • Exons
  • Genome*
  • Introns
  • Open Reading Frames
  • RNA, Untranslated
  • Sequence Analysis, DNA


  • RNA, Untranslated