Breakthrough Genomics

Irvine,  CA 
United States
  • Booth: 1113

Breakthrough Genomics: End-to-End Genomic Analysis


Founded in 2016, Breakthrough Genomics is a pioneer in the clinical interpretation of Whole Genome, Whole Exome, and Gene Panel Tests. Breakthrough Genomic's proprietary software platform ENLITER™ is the only NGS interpretation software designed specifically to mimic the workflow of a U.S. Board-certified medical geneticist. By deploying ENLITER™, clinical genetics labs can improve diagnostic yields and meet CAP and CLIA requirements for every step of the process. ENLITER™ also has a number of best-in-class features including: - Up-to-date Diagnostic Evidence all in one place - Proprietary Method to Prioritize Variants - Real-time Literature Presentation for each variant - Evidence-bases Automatic Reporting - Copy Number and Structural Variant Analysis Best of all, ENLITER™ is easy to use, validate, and customize. Please stop by booth 1113, we would be happy to meet you and show you our video demonstrations of ENLITER™

 Press Releases

  • March 30, Irvine, CA.  Breakthrough Genomics - a pioneer in genomic analysis and variant interpretation, just released a new version of their intelligent, cloud-based ENLITERTM software platform.  The new version, released this week, adds Copy Number and Structural Variant analysis along with Tandem Repeat Expansion analysis to an already comprehensive NGS data analysis platform.  These new tools allow users of ENLITERTM the ability to analyze these critical genetic variations as part of their standard NGS interpretation workflow.  In essence, geneticists using ENLITERTM can now complete three distinct types of tests from one NGS sample, which will greatly increase the efficiency and diagnostics yield for clinical genetics labs.

    ENLITERTM already boasts a full suite of powerful filters and tools for end-to-end NGS analysis including: a free text phenotype filter, real-time literature presentation, and one-click access to the underlying NGS data.  Adding Copy Number analysis and Tandem Repeat Expansion analysis furthers the company's goal of making ENLITER a one-stop-shop for complete and up-to-date genomic analysis.