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 ENLITERTM 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. ENLITERTM 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. ENLITERTM works with a wide variety of sequencing data including whole exome, whole genome, gene panels, and SNP array data.
ENLITERTM 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. ENLITERTM 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 ENLITERTM gives physicians the ability to more accurately diagnose and treat each individual patient. At Breakthrough Genomics we see the bright future of informatics in healthcare – and it is powered by ENLITERTM.