Geneticist Assistant NGS Interpretative Workbench features an Operational Management function with a unique workflow builder that permits users to mimic their physical workflow in “silico,” providing real‐time status tracking of samples throughout the workflow; operational statistics by department or function and automated e-mail notification of status changes. Developed in collaboration with Emory Genetics Laboratory, the management system streamlines control and management of samples, provides “time‐based” production information by department and identifies operational bottleneck. Additionally, the software incorporates pathogenicity, calling information from 17 public and custom databases; and single-click linkage to comprehensive databases such as Alamut and LOVD (Leiden Open Variation Database), providing pathologists and geneticists with a comprehensive overview of information regarding variant pathogenicity in a single detailed view. Additional tools include CAP Validation Assistance that captures quality trending statistics over time; positive control verification capabilities; process control stats; an automated BED file builder, that indicates regions of clinical significance and “bioinformatics pipeline automation” all while building a historical knowledge base of Next Generation Sequencing Whole Exome or Targeted Disease Panels data. It is compatible with outputs from all major NGS sequencing platforms including those from Ion Torrent, Illumina and Roche.
