AMP 2019 Corporate Workshop
Applying Artificial Intelligence to Accelerate Variant Classification and Clinical Reporting of NGS Gene Panels
Francisco De La Vega, D. Sc.
Chief Scientific Officer, Fabric Genomics
Presented on Wednesday, November 6, 2019

Dr. De La Vega presented data from our new inference engine that leverages deep gene and variant annotation for highly accurate ACMG variant classification for gene panels: Fabric ACE. As a demonstration of the efficiency achieved with ACE in routine testing, Dr. De La Vega presented results of the analysis of a 52-gene inherited cancer panel from a cohort of 2,642 cancer patients of diverse histology, showing a reduction of manual classification greater than 90%. ACE is embedded into Fabric Enterprise for complete FASTQ-to-clinical report workflow and allows labs to accelerate accurate variant interpretation, classification, and clinical reporting down to minutes per case, enabling labs to score variants rapidly, reproducibly, cost-effectively and at scale.