<i>DPYD</i> Sequencing Identifies More Clinically Relevant Variants as Compared to Targeted Genotyping
While AMP Tier 1 genotyping would have identified most patients at risk for fluoropyrimidine toxicity, sequencing is more comprehensive, identifying 26% more reportable variants compared to targeted genotyping. A standard framework for pharmacogenomic variant classification could facilitate consistent variant classification and a transition from targeted genotyping to sequencing.
Authors
- Michelle L. Kluge
- Emily Thoreson (ORCID: https://orcid.org/0000-0003-1577-3949)
- Sarah Arneson
- Linnea M. Baudhuin (ORCID: https://orcid.org/0000-0003-4230-5032)
- Katrina E. Kotzer (ORCID: https://orcid.org/0000-0001-7460-6062)
- Loralie J. Langman
- A. M. Moyer
- Elyse M Love
- John Logan Black
- Heather L Glessner
- Emma Lundquist
Institutions
- Mayo Clinic in Arizona (US)
Publication Details
- Journal
- Clinical Chemistry
- Published
- 2026-01-13
- DOI
- https://doi.org/10.1093/clinchem/hvag007
- Primary Topic
- Colorectal Cancer Treatments and Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00