Technology

Breakthrough Genomics’ ability to deliver “better results faster” for a wide-range of genetics tests is the result of the company’s proprietary techniques for the clinical interpretation of genomic data.

The revolutionary methodology employed by the Breakthrough Genomics’ team leverages intelligent bioinformatic architecture that is able to simultaneously analyze millions of up-to-date scientific publications and terabytes of clinical genomic data.

The result is the ability to accurately pinpoint pathogenic and likely pathogenic genetic variants within minutes.

Each test result is then individually reviewed by a Board-certified Medical Geneticist.

Depending in the genetic test being analyzed the Breakthrough Genomics team uses one of two proprietary AI-powered diagnostic platform:

Enliter™ is the company’s primary end-to-end
genomics interpretation platform built specifically
for clinical purpose. Enliter™ uitilizes next-
generation computing power to enable our genetic
scientiststo analyze a wide range of genomic data
including Whole Exome, Whole Genome, and gene
panel tests.

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Virtual Geneticist™ is a first in its class bioinformatics
platform designed to act as a companion to the team’s
medical geneticists as they work to diagnose of some of
the most difficult and hardest-to-detect rare genetic
diseases. Among other achievements, Virtual Geneticist™
features advanced natural language processing and a
proprietary pathogenicity ranking that helps geneticist
streamline the process of determining the correct
diagnosis, even for the most difficult cases.