The exome blind spot: Genomes catch what exomes miss

PCR free clinical whole genome sequencing (WGS) combined with in-silico analysis provides:

  • Better coverage of exonic mutations
  • Detection of small sequence changes, structural variants (including CNVs), short tandem repeats and mitochondrial variants in a single assay
  • Ability to rerun analyses without resequencing

Which begs the question:

“When you get one shot at the answer, which test would you choose?”

Listen in as Christine Stanley, PhD, FACMG, discusses how genome testing differs from panel and exome testing and presents a series of cases recently solved using Genomic Unity® whole genome testing. All of the cases highlight causative variants that could not have been identified by exome sequencing.

Interested in learning more?

Read more about Genomic Unity® testing, a WGS-based methodology that identifies small sequence changes, mitochondrial variants, structural variants and short tandem repeats in a single assay.

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