Clinical Genome Inference System: Variant Prioritization for Clinical Diagnostics

Award Information
Agency:
Department of Health and Human Services
Branch
n/a
Amount:
$1,578,068.00
Award Year:
2012
Program:
SBIR
Phase:
Phase II
Contract:
4R44HG006579-02
Award Id:
n/a
Agency Tracking Number:
R44HG006579
Solicitation Year:
2012
Solicitation Topic Code:
NHGRI
Solicitation Number:
HG10-019
Small Business Information
2200 Powell St., Suite 525, EMERYVILLE, CA, -
Hubzone Owned:
N
Minority Owned:
N
Woman Owned:
N
Duns:
148382315
Principal Investigator:
MARTINREESE
(510) 595-0800
mreese@omicia.com
Business Contact:
MARTINREESE
(510) 595-0800
mreese@omicia.com
Research Institute:
Stub




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.

* information listed above is at the time of submission.

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