How Oregon’s OHSU Knight Diagnostics Laboratories Supercharged Exome Workflows with eVai

Oregon Health & Science University (OHSU) Knight Diagnostics Laboratories (KDL) is a premier CLIA-certified and CAP-accredited laboratory in the United States, delivering advanced genetic diagnostics for inherited rare disorders to the wider Portland community.

With a significant legacy in diagnostic test development and validation, the KDL team has recently conducted an extensive validation of the impact of AI tools in diagnostic clinical exome sequencing. At ASHG 2025, Dr. Timothy O’Brien, staff scientist from the KDL team, presented the results of their validation of eVai and its impact on exome sequencing data interpretation. 

The validation, conducted on a cohort of previously analysed positive and negative cases, demonstrated that eVai consistently and accurately identified and prioritized causative variants in patient cases. The use of the Suggest Diagnosis algorithm drastically decreased the numbers of variants to review per case from ~78,000 to just a small set of variants, showing that eVai can improve clinical exome sequencing workflows and speed up analysis.

Following this rigorous validation, eVai was officially adopted by KDL as a primary diagnostic tool for clinical variant interpretation. Dr. Alaa Koleilat, Director of Molecular Diagnostics and Cytogenetics at KDL, noted that the implementation of eVai has "positively impacted interpretation efficiency by reducing the manual review list to a manageable handful of high-priority hits." 

Integrating eVai will help KDL provide families facing rare disorders the definitive answers they deserve with speed and accuracy.