Integrated Bioinformatics Analysis Suite for targeted NGS of clinical specimens

描述(申请人提供)：随着快速台式测序仪的出现，如PGM和MiSeq，改变癌症诊断和患者护理的潜力是巨大的。尽管测序仪器已经变得相对负担得起，但对NGS数据分析和解释的需求仍然是许多研究和临床实验室采用基于NGS的分析的一大障碍。要获得高质量的结果，需要广泛的基础设施和经过验证的工作流程，其中包括试剂、质量控制指标和生物信息学分析工具。如果没有能够识别问题的适当控制，任何NGS诊断分析都可能在开始之前就失败。在第二阶段，这些挑战将通过扩大SuraSight的生物信息学能力以及Asuragen为研究和临床应用提供高质量的定向NGS分析和NGS产品的持续使命来解决。提出了以下目标：目标1.扩展S的分析和分析能力，同时扩大对多种测序技术的支持。目标2.通过实施动态和功能丰富的基于云的框架，使SuraSight得以采用。目标3.通过支持多站点验证研究，展示在AIM 1和2中开发的技术的健壮性。在第二阶段完成后，全面的NGS SuraSight系统将可用于研究和临床实验室；SuraSight系统提供的测试解决方案得到基于云的基础设施上经过验证的完整实验工作流程和自动化分析的支持。

DESCRIPTION (provided by applicant): With the advent of rapid bench top sequencers such as the PGM and MiSeq, the potential to transform cancer diagnosis and patient care is great. Although sequencing instrumentation has become relatively affordable, the need for NGS data analysis and interpretation still remains a big hurdle to the adoption of NGS based assays for many research and clinical laboratories. Obtaining high quality results requires an extensive infrastructure and validated workflow which includes reagents, QC metrics, and bioinformatics analysis tools. Without proper controls which can identify problems, any NGS diagnostic assay can fail even before it starts. In Phase II, these challenges will be addressed by expanding the bioinformatics capabilities of SuraSight in conjunction with Asuragen's ongoing mission to provide high quality targeted NGS assays and NGS products for research and clinical applications. The following aims are proposed: Aim 1. Exapnd SuraSight"'s analytical and analysis capabilities while broadening support for multiple sequencing technologies. Aim 2. Enable SuraSight adoption by implementing a dynamic and feature-rich cloud-based framework. Aim 3. Demonstrate the robustness of the technologies developed in Aim 1 and 2 by supporting a multisite validation study. Upon completion of Phase II, a comprehensive NGS SuraSight system will be available for research and clinical laboratories; the SuraSight system provides testing solutions that are supported by a complete validated experimental workflow and automated analysis on a cloud-based infrastructure.