HRannot: An accurate and user-friendly gene annotation pipeline for vertebrates

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This paper describes HRannot, a gene annotation pipeline for vertebrate genomes that aims to produce accurate annotations of protein-coding genes and pseudogenes using limited computing resources. The authors use homologous genes from related species and RNA-seq data from the same species to annotate both known and novel genes, and report that HRannot outperforms existing well-regarded gene annotation tools while being comparable or better than NCBI’s eukaryotic genome annotation pipeline. The main caveat is that the study emphasizes development and benchmarking of annotation performance rather than any disease-specific biological validation. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

With the development of long reads sequencing technologies and assembly tools, high-quality genome assembly becomes routine in individual labs. In the past few years, numerous high-quality genome assemblies for various vertebrate individuals and species have been deposited in public databases. However, most of these genomes are not annotated for the protein-coding genes, the major working horse in cells, limiting their applications. This dilemma is caused by the reality that the existing easily-used tools cannot achieve accurate annotation, whereas accurate tools such as the NCBI’s eukaryotic genome annotation pipeline are unavailable to individual labs due to the complexity of their use and their high demand for computing resources. Here, we developed an accurate and user-friendly gene annotation pipeline HRannot, enabling accurate annotation of both protein-coding genes and pseudogenes in vertebrate genomes using limited computing resources. Based on both homologous genes in related species and and RNA-seq data from the same species, HRannot is able to annotate both known and novel genes. HRannot outperforms all available well-regarded gene annotation tools, and is comparable or even better in some cases than the NCBI’s gene annotation pipeline.
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Abstract With the development of long reads sequencing technologies and assembly tools, high-quality genome assembly becomes routine in individual labs. In the past few years, numerous high-quality genome assemblies for various vertebrate individuals and species have been deposited in public databases. However, most of these genomes are not annotated for the protein-coding genes, the major working horse in cells, limiting their applications. This dilemma is caused by the reality that the existing easily-used tools cannot achieve accurate annotation, whereas accurate tools such as the NCBI’s eukaryotic genome annotation pipeline are unavailable to individual labs due to the complexity of their use and their high demand for computing resources. Here, we developed an accurate and user-friendly gene annotation pipeline HRannot, enabling accurate annotation of both protein-coding genes and pseudogenes in vertebrate genomes using limited computing resources. Based on both homologous genes in related species and and RNA-seq data from the same species, HRannot is able to annotate both known and novel genes. HRannot outperforms all available well-regarded gene annotation tools, and is comparable or even better in some cases than the NCBI’s gene annotation pipeline. Competing Interest Statement The authors have declared no competing interest. Footnotes ↵# The author supervised this work and should be addressed to zcsu{at}uncc.edu (ZS). Some of the figures are changed.

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last seen: 2026-05-20T01:45:00.602351+00:00