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Maximizing Diagnostic Yield with an Optimized Variant Interpretation Platform

Using specific case examples as illustrations, Dr. Katherine Benson of the Royal College of Surgeons Ireland discusses how her team has implemented an all-in-one solution for the analysis and interpretation of sequencing results in the epilepsy clinic and how this approach has increased diagnostic yield across all cohorts in a national epilepsy genomics project.
Postdoctoral Researcher, Royal College of Surgeons Ireland (RCSI)
Katherine Benson, PhD
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