Integrated Bioinformatics Analysis Suite for targeted NGS of clinical specimens

用于临床样本靶向 NGS 的集成生物信息学分析套件

• 批准号: 8715650
• 负责人: Brian Clifton Haynes
• 金额: $ 87.61万
• 依托单位: ASURAGEN, INC.
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-25 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8715650
• 关键词: Address; Adopted; Adoption; Advanced Development; Amendment; Bioinformatics; Biological Assay; Cancer Patient; Caring; Clinical; Clinical Research; Code; Communities; Complex; DNA; Data; Data Analyses; Diagnostic; Environment; Fine needle aspiration biopsy; Formalin; Genetic Variation; Genome; Genotype; Ions; Knowledge; Laboratories; Libraries; Malignant Neoplasms; Methods; Metric; Mission; Paraffin Embedding; Patient Care; Performance; Phase; Preparation; Procedures; Process; Quality Control; Reagent; Refractory; Research; Research Infrastructure; Sampling; Site; Solutions; Specimen; System; Systems Analysis; Technology; Testing; Translations; Variant; Vision; base; cancer diagnosis; cancer type; clinical application; clinically relevant; cloud based; design; drug development; experience; improved; insertion/deletion mutation; instrumentation; meetings; next generation sequencing; novel; public health relevance; research and development; systems research; tool; validation studies; virtual

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.

描述（由申请人提供）：随着PGM和Miseq等快速台式序列仪的出现，改变癌症诊断和患者护理的潜力非常好。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为许多研究和临床实验室采用基于NGS的测定法。获得高质量的结果需要广泛的基础架构和经过验证的工作流程，其中包括试剂，QC指标和生物信息学分析工具。如果没有适当的控件可以识别问题，任何NGS诊断测定即使在开始之前就可能失败。 在第二阶段中，将通过扩大Surasight的生物信息学能力以及Asuragen的持续提供的使命，以提供高质量的目标NGS分析和NGS产品来解决研究和临床应用。提出了以下目的：目标1。Exapndsurasight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。通过实施基于动态和富特征的基于云的框架来实现透明度的采用。目的3。在AIM 1和2的跨越跨度验证中，在跨度验证中的稳定性进行了跨度验证的稳定性。研究和临床实验室;