Breakthrough Genomics is a pioneer in interpreting Whole Exome, Whole Genome, and Gene Panel Tests.
Breakthrough Genomic’s AI/ML powered software platform ENLITER™ is the only Clinical Interpretation Solution designed to mimic the workflow of a U.S. Board-Certified Medical Geneticist.
Collectively, the company’s founders have over 60 years of experience directing genomics programs for leading institutions including Illumina, UCLA, and Quest Diagnostics.
End-To-End Genomic Analysis
Improve Diagnostic Yields and Meet CAP and
CLIA Requirements for Every Step in the the Process
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In the News
Excited to inform you of the official launch of the first targeted Coronavirus Genetic Susceptibility Assessment (CGSA) Panel!
Click HERE to Learn More!
Informatics Startup Breakthrough Genomics Developing Coronavirus Susceptibility Assessment.
Click HERE to Read BTG’s Article in GenomeWeb!
Breakthrough Genomics Launches a Coronavirus Genetic Susceptibility Assessment as part of its Services.
Click HERE to Read our Press Release!
Who Is Using ENLITER™?
All the tools and information needed to meet current CAP and CLIA requirements were quickly available. All the evidence needed to reach the correct diagnosis is easy to see and ENLITER gave me real-time updates on the latest findings without having to leave the platform, which is a real time saver. I really found the Free-Text Phenotype Filter to be a great way to quickly zoom in on the most-important variants. I was also able to customize and save my filters, analyses, and variant classifications whenever I needed to. Overall, it's a powerful tool that no lab should be without.
ENLITER™ is easy to use, validate, and customize
ENLITER’s proprietary technology ranks and prioritizes variants with a high degree of sensitivity enabling clinical labs to improve their diagnostic yields.
ENLITER also deploys a powerful free-text phenotype filter that produces results for identifying clinically-relevant variants that are more targeted than the variant selection of top competitors.
To protect our users’ privacy and sensitive health information is our top priority. Our software has compliance with HIPAA, CLIA, dbGaP and the US-European Data Privacy Safe Harbor regulations. Genomic information is stored on the cloud and available to the software users via a web browser with strict secure access. Patient’s identifiers, if provided, are stored securely and separately from genomic information to protect privacy and confidentiality. The authorized software users have complete control of their data including data retention and destruction. Software user data are encrypted when in transit both over the internet and on the cloud to minimize the risk of unauthorized access to the system.