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首页> 外文会议>International Conference on Cancer Care Informatics >A Pipeline for Variant Calling in Tumor Panels Using Amplicon Sequencing Data
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A Pipeline for Variant Calling in Tumor Panels Using Amplicon Sequencing Data

机译：使用扩增子测序数据呼出肿瘤面板的变体的管道

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Analysis of raw data generated from Next Generation Sequencing (NGS) equipments is critical in detection of pathogenic and non-pathogenic variants. Illumina MiSeq for instance has a software called Miseq-Reporter [1] which performs the analysis of the sequencing raw data. Miseq-Reporter was built to handle several workflows along with amplicon workflow such as assembly and enrichment workflows. Moreover, many procedures, such as removing non-unique alignments and remov-ing reads with N bases, need to be applicable for the analysis. There are also other pipelines available but none meets all the following features: oriented to the analysis of NGS amplicon data, uses a range of flexible procedures, and is academically free. In this paper, we report the development and implementation of an in-house pipeline which is oriented to the analysis of NGS amplicon data, applies a range of parameterized procedures that are needed to be applicable in the variant-calling analysis using amplicon data, and is academically free.
机译：从下一代测序（NGS）设备产生的原料数据分析在检测到病原和非致病变体中是至关重要的。 Illumina Miseq例如具有名为MiseQ-Reporter [1]的软件，该软件执行对Re原始数据的分析。 MiseQ-Reporter建于处理多个工作流程以及诸如装配和丰富工作流程之类的扩增子工作流程。此外，许多过程，例如去除非唯一对准和用N个基础读取读取，需要适用于分析。还有其他管道可用，但没有满足所有以下功能：面向对NGS扩增子数据的分析，使用一系列灵活的程序，并且是学者自由的。在本文中，我们报告了一个内部管道的开发和实施，该管道导向为NGS扩增子数据的分析，应用了一系列使用扩增子数据所需的参数化程序，以使用扩增子数据，以及是自由的。

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