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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.

Katherine Benson, PhD

Postdoctoral Researcher, Royal College of Surgeons Ireland (RCSI)

Katherine is currently using next generation sequencing technologies to improve understanding of how genomic testing can help improve diagnostics and patient outcomes. She previously completed a PhD in Queen’s University Belfast, UK in 2017 after which she joined RCSI, Dublin. Katherine has a particular research interest in renal disease genomics and was recently awarded a fellowship by the Irish Research council to utilise genomic sequencing to better understand hereditary renal disease in Ireland in a collaboration with Beaumont Hospital, the National Centre for Kidney Transplantation. Katie also works as part of SFI FutureNeuro to integrate genomic sequencing data into the electronic health records for adult and paediatric epilepsy clinics in Ireland.


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