Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files.
Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files.
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DOI：
10.1186/1471-2105-15-s7-s12
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发表时间：
2014
影响因子：
3
通讯作者：
Ridge PG
中科院分区：
文献类型：
--
作者：
Ebbert MT;Wadsworth ME;Boehme KL;Hoyt KL;Sharp AR;O'Fallon BD;Kauwe JS;Ridge PG
自从下一代测序技术出现以来，许多以前无法验证的假设已经实现。下一代测序已被用于不同领域的广泛研究，如人口和医学遗传学，遗传学，微生物学等。然而，这项新技术带来了意想不到的挑战，例如大量的遗传变异。每个高加索人的基因组都有超过四百万个单核苷酸变异、插入和缺失、拷贝数变异和结构变异。已经提出了几种格式来存储这些变体;然而，变体调用格式（VCF）已经成为社区标准。我们开发了新的软件称为变体工具箱（VTC），以提供急需的工具来处理VCF文件。VTC提供了各种工具，用于操作，比较和分析VCF文件，超出了现有工具的功能。此外，VTC被编写为可以使用新工具轻松扩展。变体工具箱带来了新的和重要的功能，补充和集成与现有的软件。职业训练局网址：https://github.com/mebbert/VariantToolChest
Since the advent of next-generation sequencing many previously untestable hypotheses have been realized. Next-generation sequencing has been used for a wide range of studies in diverse fields such as population and medical genetics, phylogenetics, microbiology, and others. However, this novel technology has created unanticipated challenges such as the large numbers of genetic variants. Each caucasian genome has more than four million single nucleotide variants, insertions and deletions, copy number variants, and structural variants. Several formats have been suggested for storing these variants; however, the variant call format (VCF) has become the community standard. We developed new software called the Variant Tool Chest (VTC) to provide much needed tools to work with VCF files. VTC provides a variety of tools for manipulating, comparing, and analyzing VCF files beyond the functionality of existing tools. In addition, VTC was written to be easily extended with new tools. Variant Tool Chest brings new and important functionality that complements and integrates well with existing software. VTC is available at https://github.com/mebbert/VariantToolChest