News & Events
The Evolving Standard of Genomic Care
February 14, 2018
The dropping cost of whole genome sequencing (WGS) coupled with the technology’s strengths is driving the next evolutionary step forward in the standard of genetic care for rare disorders. Shortening the diagnostic journey for monogenic disorders, as well as multifactorial inherited disorders like developmental delay.
Read our three-part series that charts the evolution to a WGS diagnostic path and download the accompanying infographic.
A Selection of 2017 Articles Foreshadowing Future Clinical WGS Applications
January 03, 2018
We usually focus on current clinical applications of whole genome sequencing (WGS), but we’re just as interested in seeing how the technology is advancing for future clinical use.
In a twist on typical “best of” year-in-review posts, we’re taking time in this first week of 2018 to highlight a few 2017 scientific publications that provided a glimpse into possible clinical applications for WGS in the future. Some ...
A clinically validated whole genome pipeline for structural variant detection and analysis
On Demand Webinar
Many benefits are inherent in whole genome sequencing (WGS) technology, including unique opportunities for detection of structural variants. Yet such analyses have generally not made their way into clinical practice.
Listen in as we describe the clinically validated WGS pipeline that we have developed for highly specific and sensitive detection of structural variants. We will discuss the combined use of breakpoint analysis, read depth ...
The Importance of Aligning Against the GRCh38 Reference Assembly for Diagnostic Accuracy
December 13, 2017
A few weeks ago, we became one of the first diagnostic companies to begin aligning against the GRCh38(hg38) reference genome for exome and genome analysis. It was a substantial R&D effort which we undertook to provide greater accuracy of analysis, which is expected to further increase diagnostic yield for patients. But why does it matter so much?
The GRCh38 assembly is noted for providing four significant improvements ...
Exomes are a Transition Test
December 6, 2017
Front Line Genomics recently interviewed Variantyx CEO Haim Neerman at the American Society of Human Genetics conference in Orlando, Florida, where they discussed why whole genome sequencing is the future of genomic diagnostic testing.
Read the full interview ...
The diagnostic utility of our Genomic Intelligence® platform has been validated by our in-house, board-certified medical geneticists and third parties alike.
Combining our advanced technology with the framework of a clinical diagnostic lab enables us to provide validated genomic diagnostic solutions.