Breakthrough Genomics

Irvine,  CA 
United States
  • Booth: 1113

Breakthrough Genomics: Building AI for Clinical Analysis


Founded in 2016, Breakthrough Genomics is a pioneer in leveraging AI and natural language processing for 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 board-certified medical geneticist. ENLITER works with both VCF and FastQ files and enables users to take their analysis from data ingestion all the way through to a final clinical report. ENLITER™ integrates all the diagnostic evidence for each variant in one place and enables its users to meet CAP and CLIA requirements for every step of the process. ENLITER™ also has a number of best-in-class features including: free text phenotype search, real-time gene-disease updates, prioritized variant ranking, and easily-customizable filters and reports. By making clinical diagnoses accurate and efficient, ENLITER™ can save a typical genetics lab thousands of dollars per sample and significantly improve turnaround times. ENLITER™ is currently in use by hospitals, clinical labs, and sequencing providers allowing them to streamline and scale up their genetic testing capabilities. ENLITER™ is easy to use and easy to validate and deploy. With ENLITER™, analyzing genomic data will never be the same.