Proprietary technology driving advanced diagnostics
Many benefits are inherent in whole genome sequencing (WGS) technology. PCR-free DNA preparation methods avoid the bias of probe- or amplicon-based separation kits. The result is comprehensive and consistent coverage across >98% of the genome. Pairing WGS with in-silico (computationally driven) analysis makes it possible to perform a very targeted analysis of a patient’s genome, directed at a list of genes selected a priori, or to perform a broader analysis that spans the exome plus characterized intronic and regulatory variants. Both from a single sample of blood or saliva.
What distinguishes one whole genome test from another are the algorithms used for in-silico analysis. WGS provides unique opportunities for detection of simple and complex variants alike, but without the right algorithms the advantages of WGS data can not be fully accessed.
Our algorithms harness AI and big data to uniquely identify and analyze four types of variants in WGS output:
- Small sequence changes: includes single nucleotide variants (SNVs) and indels <50bp
- Structural variants: includes deletions and duplications ≥50bp, insertions, inversions and balanced translocations
- Trinucleotide repeat expansions
- Mitochondrial variants
These algorithms are the foundation of the Genomic Intelligence® platform, our in-house developed data analysis, interpretation and reporting platform.
Developed to handle WGS data, our proprietary Genomic Intelligence® platform provides sample to clinical report generation and automation for genomic tests at any size or scale. All aspects of the NGS testing process are seamlessly integrated to deliver the highest level of operational efficiency coupled with superior diagnostic results.
Our Genomic Intelligence® platform integrates and automates:
- Sample collection and test selection
- DNA extraction, QC and sequencing
- Data QC, analysis and annotation
- Interpretation and clinical reporting
The HIPAA- and CLIA-compliant platform has been clinically validated as described in our clinical validation study. It is used by our in-house clinical team for variant interpretation and reporting for our Genomic Unity® and Genomic Inform® tests. It is also used by select partners labs to perform dedicated tasks such as clinical report generation.
Clinical Validation Study
Our clinical expertise
The Genomic Intelligence® platform facilitates clinical interpretation through smart filtration and ranking of variants using public, commercial and proprietary sources of content, including custom curated data for “unmapped” structural variants and pathogenic tandem repeats. But at the end of the day, interpretation and selection of variants for reporting is a manual process performed by our highly skilled team of variant scientists and medical directors who use rigorous, standardized interpretation protocols to identify the causal variants relevant to the patient’s clinical phenotypes.