Article
Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.
Clinical and translational science - 1 Apr 2026
Diekstra Meta H M, Biesot Nienke, Donders Julie, Verwiel Eugène T P, Janse Alex, Huitema Alwin D R, Hanff Lidwien M, Tops Bastiaan B J, Kemmeren Patrick, Hehir-Kwa Jayne Y
Abstract excerpt
Whole genome sequencing (WGS) is increasingly accessible in clinical practice, enabling pharmacogenomics (PGx) integration, including in pediatric oncology. However, the lack of validated software to accurately annotate clinically actionable PGx variants from WGS limits routine implementation. We therefore aimed to identify and validate a PGx annotation tool suitable for clinical use in pediatric oncology. We...
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