The Precisome™ Platform Bridges the ACDY5 Diagnostic Gap

ASHG Lit-3


A Methodology Discussion

Variants of Uncertain Significance (VUS) represent a startling percent of the reported alleles in disease causing genes, yet the functional consequence of VUS remains unclear. Within this discussion you will learn how the Precisome Platform™ can:

  • Rapidly probe a patient’s disease biology
  • Provide distinct functional analysis of the pathogenic verses benign variant landscape
  • Yield high quality assessments of VUS pathogenicity

And more....