Integrated Bioinformatics Analysis Suite for targeted NGS of clinical specimens

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 Asuragenandapos s ongoing mission to provide high quality targeted NGS assays and NGS products for research and clinical applications The following aims are proposed Aim Exapnd SuraSightandquot andapos s analytical and analysis capabilities while broadening support for multiple sequencing technologies Aim Enable SuraSight adoption by implementing a dynamic and feature rich cloud based framework Aim Demonstrate the robustness of the technologies developed in Aim and 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 PUBLIC HEALTH RELEVANCE We aim to develop novel bioinformatics applications that will improve the accuracy of detecting genetic variations in different types of cancer This research will provide solutions to support clinical research laboratories and drug development research and ultimately improve care for cancer patients