SBIR/STTR Research Award
Clinical Genome Inference System: Variant Prioritization for Clinical Diagnostics
Award amount
$1,578,068Program and phase
SBIR · Phase IIAward year
2012Award details
- Awarding agency
- Department of Health and Human Services
- Branch
- National Institutes of Health
- Recipient company
- Fabric Genomics, Inc.
- Proposal award date
- Not reported
- Contract end date
- Not reported
- UEI
- GK2KKJM9UNN9
- Solicitation number
- HG10-019
- Topic code
- NHGRI
Research abstract
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.
Technology keywords
Not reported
Other awards by this recipient
Verified by the same UEI. These are other public SBIR/STTR award pages, not a merged company record.
- Clinical Genome Inference System: Variant Prioritization for Clinical Diagnostics
- Genetic Hotspots for Disease Risk
- Disease Annotations for Variants in Personal Genomes
- Computational system to predict novel genetic disease associations
- System for genetic marker information delivery
Awards with the same topic code
Verified by an exact topic code match. This is not a text-similarity match.
- Platform to support clinical variant interpretation through probabilistic assessment of functional evidence
- Innovations to expand and accelerate the commercial impact of DNA modifications
- High-throughput Direct Sequencing and Quantitative Mapping of RNA Modifications using Mass Spectrometry.
- Super-resolution single-molecule sequencing by observing the dynamic hybridization of a repertoire of oligonucleotides to DNA targets
- Exhaustive de novo sequencing of every RNA in a sample by a layer-by-layer mass spectrometry ladder intensity approach.
Research funding history
11 SBIR/STTR records share this UEI (2003–2012). Reported award amounts total $4,958,901. Reported amounts are not federal obligations.
Phases: Phase I, Phase II
Agencies: Department of Health and Human Services