Pioneer in interpreting NGS (WGS, WES and Gene Panel Tests); lab agnostic, yet enabling and fully integrating into turn key solutions. 
AI/deepML powered proprietary  software platform ENLITER™, the most advanced clinical support tool for genomics interpretation.
Adapts to a wide variety of pipelines & tests and improves diagnostic yield.

Founded by leaders in the genomics field including the Former Clinical Director at Illumina and the former Bioinformatics Director at Quest Diagnostics, Breakthrough Genomics is a pioneer in leveraging machine learning for the analysis of genomic data for clinical purposes. Our proprietary software platform, ENLITERTM mimics the workflow of a U.S. Board-certified medical geneticist and gives healthcare professionals the ability to provide fast turnaround times and improved diagnostic yields for their patients.

The ENLITER(TM) platform ranks, prioritizes, and color-codes genetic variants with more accuracy, at a lower cost, and in a fraction of the time compared to the industry clinical standard. ENLITER(TM) also provides additional tools and up-to-date information including a real-time literature presentation for each variant, a powerful free-text phenotype filter, and a detailed copy number and structural variant analysis.  ENLITER(TM) works with a wide variety of sequencing data including whole exome, whole genome, gene panels, and SNP array data.

ENLITER(TM)  is a customizable, secure, cloud-based system that is fully compliant with HIPAA patient data privacy regulations and has received a clinical license for Clinical Genetic Diagnosis.  ENLITER(TM) works across a variety of testing categories including, but not limited to, inherited cancer risk, prenatal screening, rare genetic diseases diagnosis, pharmacogenomics, oncology, and other areas such as cardiovascular metabolism.  

The data produced by ENLITER(TM) gives physicians the ability to more accurately diagnose and treat each individual patient.  

AI/ML

Health Diagnostics

Software

Breakthrough Genomics

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