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doi: 10.1136/jclinpath-2018-205013 12 ChenWXieZWangXZhaoJHHuQChenYHet al

The authors utilized genome-wide genotyping and subsequent genotype imputation to infer metabolic phenotypes, classifying individuals into poor (PM), intermediate (IM), normal (NM), and rapid/ultrarapid metabolizers (RM/UM) according to CPIC guidelines ( This approach allowed the translation of genetic polymorphisms into predicted enzymatic activities, although with notable limitations for CYP2D6, whose structural variantssuch as duplications and deletions that critically affect enzyme functioncannot be accurately imputed from standard SNP array data (Nofziger et al., 2020

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indicates increased/upregulated levels or expression, indicates decreased/downregulated levels or expression