Genome assembly has a major impact on gene content: a comparison of annotation in two Bos taurus assemblies

PLoS One. 2011;6(6):e21400. doi: 10.1371/journal.pone.0021400. Epub 2011 Jun 22.


Gene and SNP annotation are among the first and most important steps in analyzing a genome. As the number of sequenced genomes continues to grow, a key question is: how does the quality of the assembled sequence affect the annotations? We compared the gene and SNP annotations for two different Bos taurus genome assemblies built from the same data but with significant improvements in the later assembly. The same annotation software was used for annotating both sequences. While some annotation differences are expected even between high-quality assemblies such as these, we found that a staggering 40% of the genes (>9,500) varied significantly between assemblies, due in part to the availability of new gene evidence but primarily to genome mis-assembly events and local sequence variations. For instance, although the later assembly is generally superior, 660 protein coding genes in the earlier assembly are entirely missing from the later genome's annotation, and approximately 3,600 (15%) of the genes have complex structural differences between the two assemblies. In addition, 12-20% of the predicted proteins in both assemblies have relatively large sequence differences when compared to their RefSeq models, and 6-15% of bovine dbSNP records are unrecoverable in the two assemblies. Our findings highlight the consequences of genome assembly quality on gene and SNP annotation and argue for continued improvements in any draft genome sequence. We also found that tracking a gene between different assemblies of the same genome is surprisingly difficult, due to the numerous changes, both small and large, that occur in some genes. As a side benefit, our analyses helped us identify many specific loci for improvement in the Bos taurus genome assembly.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cattle / genetics*
  • Chromosome Mapping
  • Exons / genetics
  • Genes / genetics*
  • Genome / genetics*
  • Introns / genetics
  • Molecular Sequence Annotation / methods*
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide / genetics
  • Proteins / chemistry
  • Proteins / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism


  • Proteins
  • RNA, Messenger