MoGAAAP: a modular Snakemake workflow for automated genome assembly and annotation with quality assessment.

IF 3 Q1 GENETICS & HEREDITY
NAR Genomics and Bioinformatics Pub Date : 2026-01-22 eCollection Date: 2026-03-01 DOI:10.1093/nargab/lqag008
Dirk-Jan M van Workum, Kuntal K Dey, Alexander Kozik, Dean O Lavelle, Dick de Ridder, M Eric Schranz, Richard W Michelmore, Sandra Smit
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引用次数: 0

Abstract

With the current speed of sequencing, there is a desire for standardized and automated genome assembly and annotation to produce high-quality genomes as input for comparative (pan)genomics. Therefore, we created a convenience pipeline using existing tools that creates annotated genome assemblies from HiFi (and optionally ultra-long ONT and/or Hi-C) reads for a set of related individuals as well as a related reference genome. Our pipeline is species-agnostic and generates an extensive quality assessment report that can be used for manual filtering and refinement of the assembly and annotation. It includes statistics for individual completeness and contamination assessments as well as a concise pangenome view. The pipeline is implemented in Snakemake and available with a GPLv3 licence at GitHub under github.com/dirkjanvw/MoGAAAP, at Zenodo under doi.org/10.5281/zenodo.14833021, and can be installed through Bioconda.

MoGAAAP:一个模块化的Snakemake工作流程,用于自动基因组组装和注释,并进行质量评估。
以目前的测序速度,人们渴望标准化和自动化的基因组组装和注释,以产生高质量的基因组,作为比较基因组学的输入。因此,我们使用现有的工具创建了一个方便的管道,从一组相关个体以及相关参考基因组的HiFi(以及可选的超长ONT和/或Hi-C)读取中创建带注释的基因组组装。我们的管道与物种无关,并生成广泛的质量评估报告,该报告可用于手动过滤和改进组装和注释。它包括个人完整性和污染评估的统计数据,以及简洁的泛基因组视图。该管道在Snakemake中实现,并可在GitHub (github.com/dirkjanvw/MoGAAAP)和Zenodo (doi.org/10.5281/zenodo.14833021)上获得GPLv3许可,并可通过Bioconda安装。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
8.00
自引率
2.20%
发文量
95
审稿时长
15 weeks
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