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Insane in the vembrane: filtering and transforming VCF/BCF files
Bioinformatics ( IF 5.8 ) Pub Date : 2022-12-14 , DOI: 10.1093/bioinformatics/btac810
Till Hartmann 1 , Christopher Schröder 2 , Elias Kuthe 3 , David Lähnemann 1, 4 , Johannes Köster 1, 5
Affiliation  

Summary We present vembrane as a command line VCF/BCF filtering tool that consolidates and extends the filtering functionality of previous software to meet any imaginable filtering use case. Vembrane exposes the VCF/BCF file type specification and its inofficial extensions by the annotation tools VEP and SnpEff as Python data structures. vembrane filter enables filtration by Python expressions, requiring only basic knowledge of the Python programming language. vembrane table allows users to generate tables from subsets of annotations or functions thereof. Finally, it is fast, by using pysam and relying on lazy evaluation. Availability and Implementation Source code and installation instructions are available at github.com/vembrane/vembrane, DOI:10.5281/zenodo.7003981. Supplementary information Supplementary data are available at Bioinformatics online.

中文翻译:

Insane in the vembrane:过滤和转换 VCF/BCF 文件

总结 我们将 vembrane 作为一个命令行 VCF/BCF 过滤工具,它巩固和扩展了以前软件的过滤功能,以满足任何可以想象的过滤用例。Vembrane 通过注释工具 VEP 和 SnpEff 将 VCF/BCF 文件类型规范及其非官方扩展公开为 Python 数据结构。vembrane filter 可以通过 Python 表达式进行过滤,只需要 Python 编程语言的基本知识。vembrane table 允许用户从注释子集或其函数生成表。最后,它很快,通过使用 pysam 并依赖惰性求值。可用性和实施​​ 源代码和安装说明可在 github.com/vembrane/vembrane, DOI:10.5281/zenodo.7003981 获得。
更新日期:2022-12-14
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