Integrated Bioinformatics Analysis Suite for targeted NGS of clinical specimens

描述（由申请人提供）：随着PGM和MiSeq等快速台式测序仪的出现，改变癌症诊断和患者护理的潜力是巨大的。虽然测序仪器已经变得相对便宜，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。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，包括试剂，QC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诊断分析甚至在开始之前就可能失败。在II期，这些挑战将通过扩大SuraSight的生物信息学能力来解决，同时Asuragen正在进行的使命是为研究和临床应用提供高质量的靶向NGS检测和NGS产品。提议的目标如下：目标1。扩展SuraSight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。通过实现一个动态的、功能丰富的基于云的框架，实现SuraSight的采用。目标3。通过支持多站点验证研究，证明在目标1和2中开发的技术的稳健性。II期完成后，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由完整的经过验证的实验工作流程和基于云的基础设施的自动分析支持。

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.