re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.
re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.
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作者：
Karabayev D;Molkenov A;Yerulanuly K;Kabimoldayev I;Daniyarov A;Sharip A;Seisenova A;Zhumadilov Z;Kairov U
高通量测序平台产生大量的高维基因组数据集，可用于分析。分析和解释基因组学数据的现代和用户友好的生物信息学工具在测序数据分析过程中变得必不可少。已经开发了不同的标准数据类型和文件格式来存储和分析序列和基因组学数据。变体调用格式（VCF）是最广泛的基因组学文件类型，也是包含基因组信息和测序样本变体的标准格式。用于处理VCF文件的现有工具通常没有直观的图形界面，而是只有一个命令行界面，对于对基因组学数据分析感兴趣的更广泛的生物医学社区来说，这可能是一个挑战。re-Searcher通过对VCF文件进行块预处理，使其不加载计算机RAM来解决这一问题。该工具可以用作独立的用户友好的多平台GUI应用程序以及web应用程序（https://nla-lbsb.nu.edu.kz）。该软件包括源代码以及经过测试的VCF文件和其他信息，可在GitHub存储库（https://github.com/LabBandSB/re-Searcher）上公开获取。
High-throughput sequencing platforms generate a massive amount of high-dimensional genomic datasets that are available for analysis. Modern and user-friendly bioinformatics tools for analysis and interpretation of genomics data becomes essential during the analysis of sequencing data. Different standard data types and file formats have been developed to store and analyze sequence and genomics data. Variant Call Format (VCF) is the most widespread genomics file type and standard format containing genomic information and variants of sequenced samples. Existing tools for processing VCF files don’t usually have an intuitive graphical interface, but instead have just a command-line interface that may be challenging to use for the broader biomedical community interested in genomics data analysis. re-Searcher solves this problem by pre-processing VCF files by chunks to not load RAM of computer. The tool can be used as standalone user-friendly multiplatform GUI application as well as web application (https://nla-lbsb.nu.edu.kz). The software including source code as well as tested VCF files and additional information are publicly available on the GitHub repository (https://github.com/LabBandSB/re-Searcher).
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影响因子：
3.9
作者：
Campbell IM;Gambin T;Jhangiani S;Grove ML;Veeraraghavan N;Muzny DM;Shaw CA;Gibbs RA;Boerwinkle E;Yu F;Lupski JR
通讯作者：
Lupski JR
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14.9
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5.8
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影响因子：
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影响因子：
42.7
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