Clinical Genome Inference System: Variant Prioritization for Clinical Diagnostics

DESCRIPTION (provided by applicant): Taking sequence to bedside is the stated and primary focus of the NHGRI for the next 5 years. Ironically, cheap genome sequencing is now producing analysis bottlenecks, especially as regards the clinical interpretationof genetic variants. The purpose of this SBIR FastTrack proposal is to obtain funding for the integration of two innovative analysis tools, developed by the PIs in parts by other NIH sponsored projects, to produce an integrated system called CGIS for sequenced-based clinical diagnostics using personal genome sequences. CGIS will greatly speed the clinical decision making process, and hence has enormous potential for commercial impact. Early adopters and collaborators include ARUP, one of the nation's top tier diagnostic, CLIA regulated, reference laboratories. PUBLIC HEALTH RELEVANCE: The purpose of this application is to build an integrated system that will reduce the time and costs for personal genome analysis by at least a factor of 100, while atthe same time improve analysis quality. Specifically we are requesting funding for the integration of two innovative analysis tools, both developed by the PIs in part with NIH support, in order to produce an integrated system for sequence variant prioritization for purposes of clinical diagnostics.