News & Press - Fabric Genomics

News & Press

Study Shows Fabric Genomics’ Algorithm Can Speed Up, Increase Genetic Disease Diagnoses Through Rapid Identification of Structural Variants

In a study involving 56 rare genetic disease cases with causal SVs, Fabric GEM – Fabric Genomics’ AI gene-ranking algorithm – provided a unified approach to analyzing SVs and SNVs in a single step, correctly identifying 96 percent of these SVs. Moreover, GEM identified the causal SV in the top five list of all candidates (SVs and SNVs) 93 percent of the time, requiring review of fewer than five candidates per case.

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