Genome Biology (Dec 2019)

Benchmarking transposable element annotation methods for creation of a streamlined, comprehensive pipeline

  • Shujun Ou,
  • Weija Su,
  • Yi Liao,
  • Kapeel Chougule,
  • Jireh R. A. Agda,
  • Adam J. Hellinga,
  • Carlos Santiago Blanco Lugo,
  • Tyler A. Elliott,
  • Doreen Ware,
  • Thomas Peterson,
  • Ning Jiang,
  • Candice N. Hirsch,
  • Matthew B. Hufford

Journal volume & issue
Vol. 20, no. 1
pp. 1 – 18


Read online

Abstract Background Sequencing technology and assembly algorithms have matured to the point that high-quality de novo assembly is possible for large, repetitive genomes. Current assemblies traverse transposable elements (TEs) and provide an opportunity for comprehensive annotation of TEs. Numerous methods exist for annotation of each class of TEs, but their relative performances have not been systematically compared. Moreover, a comprehensive pipeline is needed to produce a non-redundant library of TEs for species lacking this resource to generate whole-genome TE annotations. Results We benchmark existing programs based on a carefully curated library of rice TEs. We evaluate the performance of methods annotating long terminal repeat (LTR) retrotransposons, terminal inverted repeat (TIR) transposons, short TIR transposons known as miniature inverted transposable elements (MITEs), and Helitrons. Performance metrics include sensitivity, specificity, accuracy, precision, FDR, and F 1. Using the most robust programs, we create a comprehensive pipeline called Extensive de-novo TE Annotator (EDTA) that produces a filtered non-redundant TE library for annotation of structurally intact and fragmented elements. EDTA also deconvolutes nested TE insertions frequently found in highly repetitive genomic regions. Using other model species with curated TE libraries (maize and Drosophila), EDTA is shown to be robust across both plant and animal species. Conclusions The benchmarking results and pipeline developed here will greatly facilitate TE annotation in eukaryotic genomes. These annotations will promote a much more in-depth understanding of the diversity and evolution of TEs at both intra- and inter-species levels. EDTA is open-source and freely available: