We see whole genome sequencing (WGS) as the standard of genomic diagnostic care, and are working to make whole genome testing broadly accessible to patients with rare genetic diseases.
Why whole genome sequencing? It provides the most comprehensive view of an individual’s genome. Unlike panels and exome sequencing which target specific regions comprising 1.5% or less of an individual’s DNA, WGS covers the entire known genome, including the mitochondrial genome. It enables identification of single nucleotide variants, indels and structural variants, including CNVs and tandem repeats, in data from a single sequencing run. This means that variants relevant to a patient’s diagnosis are less likely to be missed. At the same time, use of in silico panels enables targeted analysis when desired. Fewer sequencing runs and individual tests are performed, yet the data can be reanalyzed at any time as new information becomes available. The result is a higher diagnostic yield and fast turnaround time combined with lower overall cost for the test provider, the payer and the patient.
Our Genomic Intelligence® diagnostic platform makes WGS accessible through a combination of integration with world-leading sequencing partners, automated data analysis with clinical report generation and collaborative diagnostic services performed by our board-certified medical geneticists.
At Variantyx we’re committed to working with clinicians, labs and hospitals alike to enable fast, high quality diagnosis at reduced cost. Let’s work together to raise the standard of diagnostic care.
Meet Our Team
Variantyx Inc, headquartered in Framingham, Massachusetts, was founded in 2014. Our team brings extensive expertise across disciplines critical to solving the challenge of making WGS accessible and affordable including medicine, clinical research, bioinformatics, engineering, information technology, laboratory and service operations and executive management.