Vcfexpress:灵活、快速的用户表达式,用于过滤和格式化vcf。

Brent S Pedersen, Aaron R Quinlan
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引用次数: 0

摘要

动机:变异调用格式(VCF)文件是用于从DNA测序实验中识别遗传变异的各种软件工具的标准输出格式。下游分析需要能够简单有效地查询、过滤和修改它们。有几个工具可以从命令行执行这些操作,包括BCFTools、membrane、slivar等。结果:在这里,我们介绍了vcfexpress,这是一个用Rust编程语言编写的新的高性能VCF文件分析工具集。它几乎和BCFTools一样快,但增加了用lua编程语言执行用户表达式的功能,以便从VCF或BCF文件中精确过滤和报告变量。我们通过将vcfexpress与使用膜基准测试的其他工具进行比较来展示其性能和灵活性。可用性:vcfexpress在MIT许可下可在https://github.com/brentp/vcfexpress上获得,手稿代码存放在https://doi.org/10.5281/zenodo.14756838.Supplementary中。信息:补充数据可在Bioinformatics在线获得。
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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Vcfexpress: flexible, rapid user-expressions to filter and format VCFs.

Motivation: Variant call format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequencing experiments. Downstream analyses require the ability to query, filter, and modify them simply and efficiently. Several tools are available to perform these operations from the command line, including BCFTools, vembrane, slivar, and others.

Results: Here, we introduce vcfexpress, a new, high-performance toolset for the analysis of VCF files, written in the Rust programming language. It is nearly as fast as BCFTools, but adds functionality to execute user expressions in the lua programming language for precise filtering and reporting of variants from a VCF or BCF file. We demonstrate performance and flexibility by comparing vcfexpress to other tools using the vembrane benchmark.

Availability and implementation: vcfexpress is available under the MIT license at https://github.com/brentp/vcfexpress with code used for the manuscript deposited in https://doi.org/10.5281/zenodo.14756838.

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