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Pathogenicity Database for Identification of Disease-Causing Genetic Variations

總結

This technology is a database of transcript-inferred pathogenicity (TraP) scores that evaluate a single nucleotide variant’s ability to cause disease by affecting splicing and transcription.

技術優勢

High accuracy (92%)High specificity (>97%) Pre-computed for ~3.9 billions genetic substitutions Able to identify synonymous and intronic genetic variations Capable of scoring up to one hundred thousand variants in a single evaluation

技術應用

Identification of non-coding variants involved in diseaseIdentification of risk factors for disease developmentDevelopment of sequencing-based diagnosticsEnhanced in-utero screening for lethal and devastating diseasesPortable and handheld genomic analysis tools Development of new therapies that target non-coding variants

詳細技術說明

None

*Abstract

None

*Inquiry

Joan MartinezColumbia Technology VenturesTel: (212) 854-8444Email: TechTransfer@columbia.edu

*IR

CU17233

*Principal Investigation

*Publications

Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB, “Annotating pathogenic non-coding variants in genic regions.” Nat. Comm. 2017 Aug 9;8(1):236.Tech Ventures Reference:IR CU17233Licensing Contact: Joan Martinez

國家/地區

美國