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Author

A. Gaedigk

2 papers indexed here

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Open access Aug 2026

Characterization of NAT2 Using Long‐Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies

The NAT2 pharmacogene is essential in drug metabolism, particularly for aromatic amines and hydrazines. Genetic variations in NAT2 categorize individuals as rapid, intermediate, or poor metabolizers based on their acetylation capacity to inform dosing guidelines. Genotyping and short‐read sequencing allele calling meth...

Shobana John, Erin C. Boone, B. Yoo et al. · 0 citations
Review Open access Aug 2026

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

The work presented here includes the first designation of decreased function alleles for both TPMT and NUDT15, reflecting new clinical data that demonstrate partial loss of enzymatic activity and reduced dose tolerance.

Bailey M. Tibben, Maud Maillard, Victoria M. Pratt et al. · 0 citations

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