Abstract

BackgroundGene prediction is one of the most important steps in the genome annotation process. A large number of software tools and pipelines developed by various computing techniques are available for gene prediction. However, these systems have yet to accurately predict all or even most of the protein-coding regions. Furthermore, none of the currently available gene-finders has a universal Hidden Markov Model (HMM) that can perform gene prediction for all organisms equally well in an automatic fashion.ResultsWe present an automated gene prediction pipeline, Seqping that uses self-training HMM models and transcriptomic data. The pipeline processes the genome and transcriptome sequences of the target species using GlimmerHMM, SNAP, and AUGUSTUS pipelines, followed by MAKER2 program to combine predictions from the three tools in association with the transcriptomic evidence. Seqping generates species-specific HMMs that are able to offer unbiased gene predictions. The pipeline was evaluated using the Oryza sativa and Arabidopsis thaliana genomes. Benchmarking Universal Single-Copy Orthologs (BUSCO) analysis showed that the pipeline was able to identify at least 95% of BUSCO’s plantae dataset. Our evaluation shows that Seqping was able to generate better gene predictions compared to three HMM-based programs (MAKER2, GlimmerHMM and AUGUSTUS) using their respective available HMMs. Seqping had the highest accuracy in rice (0.5648 for CDS, 0.4468 for exon, and 0.6695 nucleotide structure) and A. thaliana (0.5808 for CDS, 0.5955 for exon, and 0.8839 nucleotide structure).ConclusionsSeqping provides researchers a seamless pipeline to train species-specific HMMs and predict genes in newly sequenced or less-studied genomes. We conclude that the Seqping pipeline predictions are more accurate than gene predictions using the other three approaches with the default or available HMMs.

Highlights

  • Gene prediction is one of the most important steps in the genome annotation process

  • We conclude that the Seqping pipeline predictions are more accurate than gene predictions using the other three approaches with the default or available Hidden Markov Model (HMM)

  • The three main gene finders: GlimmerHMM, AUGUSTUS, and SNAP, have pre-build HMM models for several model species in their software packages, but the available existing HMMs may not be suitable for highly complex plant genomes

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Summary

Introduction

A large number of software tools and pipelines developed by various computing techniques are available for gene prediction. These systems have yet to accurately predict all or even most of the protein-coding regions. Rapid and cost-effective next-generation sequencing (NGS) technologies produce large volumes of DNA sequencing data in large-scale genome projects. These advances enabled the research community to sequence. Gene finders are often trained using known gene models and this leads to biases in gene structure [12,13,14] None of these systems incorporates a flexible, universal gene model that can perform gene prediction for a wide range of species. Available gene finders do not accurately predict most of the protein-coding regions [15], and predicting the complete set of an organism’s protein-coding genes remains a significant challenge

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