News & Events
Variantyx and FDNA Announce Integration of their Applications to Facilitate Rare Disease Diagnosis
August 30, 2017
Variantyx today announced integration of its clinical whole genome testing pipeline with FDNA’s Face2Gene suite of applications. Using its proprietary Genomic Intelligence® platform, Variantyx provides end-to-end clinical diagnostic services for rare genetic disorders based on comprehensive whole genome sequencing (WGS). Integration with Face2Gene technology now enables clinicians worldwide to send information about the phenotypes, syndromes and genes that correlate with a patient’s facial and clinical ...
A clinically validated whole genome pipeline for structural variant detection and analysis
November 30, 2017, 8:00am PT | 11:00am ET | 6:00pm IT
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. Join us as we describe the clinically validated WGS pipeline that we have developed for highly specific and sensitive detection of structural variants. We will ...
Insights into the diagnostic value of reanalyzing unsolved whole exome and genome cases
December 8, 2017, 10:00am PT | 1:00pm ET | 8:00pm IT
Whole exome (WES) and genome (WGS) sequencing is becoming the standard of care for diagnosis of many rare diseases. Yet published reports show a diagnostic yield of only 25 to 40 percent. Believing that the lack of diagnosis may in part be explained by limitations in the clinical annotation tools used for analysis and interpretation, we launched a campaign ...
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.