GENEie® is the first evidence-based Clinical Decision Support software developed for accurate, confident, clinical interpretation of extended splice-site variants. Designed specifically for use in genetic pathology, GENEie empowers clinical decision making by producing ACMG-aligned clinical evidence that supports variant-disease association.

Fundamentally distinct from ‘black box’ predictive metrics, GENEie® intelligent evidence embodies pathology reasoning and the search for meaningful clinical evidence, reporting all source evidence for expert scrutiny.

GENEie® evidence has potential to enable vastly more Extended Splice Site variants to be accurately classified and provides a pragmatic triage for RNA sequencing with predictable, high, diagnostic return.