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CaReAl: capturing read alignments in a BAM file rapidly and conveniently
Journal of Big Data ( IF 8.6 ) Pub Date : 2021-01-26 , DOI: 10.1186/s40537-021-00418-w
Yoomi Park , Heewon Seo , Kyunghun Yoo , Ju Han Kim

Some of the variants detected by high-throughput sequencing (HTS) are often not reproducible. To minimize the technical-induced artifacts, secondary experimental validation is required but this step is unnecessarily slow and expensive. Thus, developing a rapid and easy to use visualization tool is necessary to systematically review the statuses of sequence read alignments. Here, we developed a high-performance alignment capturing tool, CaReAl, for visualizing the read-alignment status of nucleotide sequences and associated genome features. CaReAl is optimized for the systematic exploration of regions of interest by visualizing full-depth read-alignment statuses in a set of PNG files. CaReAl was 7.5 times faster than IGV ‘snapshot’, the only stand-alone tool which provides an automated snapshot of sequence reads. This rapid user-programmable capturing tool is useful for obtaining read-level data for evaluating variant calls and detecting technical biases. The multithreading and sequential wide-genome-range-capturing functionalities of CaReAl aid the efficient manual review and evaluation of genome sequence alignments and variant calls. CaReAl is a rapid and convenient tool for capturing aligned reads in BAM. CaReAl facilitates the acquisition of highly curated data for obtaining reliable analytic results.



中文翻译:

CaReAl:快速方便地捕获BAM文件中的读取比对

通过高通量测序(HTS)检测到的某些变体通常无法重现。为了最大程度地减少技术引起的伪影,需要进行二次实验验证,但是此步骤不必要地缓慢且昂贵。因此,开发一种快速且易于使用的可视化工具对于系统地检查序列读取比对的状态是必要的。在这里,我们开发了一种高性能比对捕获工具CaReAl,用于可视化核苷酸序列和相关基因组特征的读取比对状态。通过对一组PNG文件中的全深度读取对齐状态进行可视化,对CaReAl进行了优化,以便对感兴趣的区域进行系统的探索。CaReAl比IGV“快照”快7.5倍,后者是唯一提供序列读取自动快照的独立工具。这种快速的用户可编程捕获工具可用于获取读取级别的数据,以评估变量调用和检测技术偏差。CaReAl的多线程和顺序的宽基因组范围捕获功能有助于对基因组序列比对和变异调用进行有效的手动检查和评估。CaReAl是一种快速便捷的工具,可用于捕获BAM中的对齐读取。CaReAl有助于获取高度精选的数据,以获得可靠的分析结果。CaReAl是一种快速便捷的工具,可用于捕获BAM中的对齐读取。CaReAl有助于获取高度精选的数据,以获得可靠的分析结果。CaReAl是一种快速便捷的工具,可用于捕获BAM中的对齐读取。CaReAl有助于获取高度精选的数据,以获得可靠的分析结果。

更新日期:2021-01-28
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