Webinar: clinical whole genome sequencing, yes we are there!

Whole genome sequencing (WGS) is often viewed as the future of clinical diagnostics. With the cost of sequencing continuing to drop, the technology is becoming even more accessible for diagnosis of rare genetic diseases - giving patients the best possible chance to understand the molecular cause of their symptoms.

Listen in as we discuss the significant advantages of whole genome testing over current NGS testing methods including:

  • Comprehensive coverage of the genome
  • Better overall exon coverage
  • Detection of structural variants
  • In silico panels for targeted evaluation
  • Ability to rerun analyses without resequencing

We also provide an overview of Variantyx’s Genomic Intelligence® rare disease diagnostic service. The end-to-end sample to clinical report service is pioneering a new approach of collaborative diagnosis, where Variantyx’s board-certified medical geneticists work with the ordering clinician or genetic counselor to diagnose and create an actionable clinical report. Representative clinical cases are discussed.