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ArticleMolecular genetics & genomic medicine2026

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.

Hsu-Heng Lin, Meng-Ju Melody Tsai, Hui-An Chen, Rai-Hseng Hsu, Yun-Syuan Lin, Yi-Lin Lin, Ching Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee

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Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Hsu-Heng LinDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0002-8719-5204
Meng-Ju Melody TsaiDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hui-An ChenDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Rai-Hseng HsuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0002-4510-9953
Yun-Syuan LinDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Yi-Lin LinDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Ching HsuDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Yin-Hsiu ChienDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0001-8802-5728
Wuh-Liang HwuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Ni-Chung LeeDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0002-5011-7499

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPharmacogenomics (PGx) enables precision medicine by improving efficacy and reducing adverse drug reactions, but implementation is limited by testing burden and ethnic variability. With whole-exome sequencing (WES) increasingly applied in Taiwan, we evaluated its feasibility for PGx analysis.

methodsWe analyzed WES data from 3562 individuals at a tertiary medical center. PGx calling was performed on 17 pharmacogenomic loci using Aldy, and HLA typing was inferred using the high-quality dictionary (HLA-HD). Phenotypes were annotated using the Pharmacogenomics Clinical Annotation Tool (PharmCAT).

resultsAfter comparison with WGS and sequencing-based HLA typing data, 14 pharmacogenomic loci were found to be suitable for PGx calling from WES. On average, each individual carried approximately 2.4 actionable phenotypes across 14 genes. Compared with East Asian and European populations, the Taiwanese population has a greater frequency of actionable pharmacogenomic phenotypes for G6PD deficiency (2%) and HLA-B*58:01 (21%). Additionally, the CYP2C19, CYP3A5, NUDT15, and HLA-B*15:02 actionable phenotypes occur at frequencies similar to those of East Asians but are more frequent than those in Europeans. Our WES findings are generally consistent with previous Taiwanese WGS and array data.

conclusionsEthnic differences in PGx variants underscore the need for population-specific data. The high prevalence of actionable phenotypes in Taiwanese individuals supports the use of WES, which effectively captures certain key pharmacogenes for routine PGx testing.

Indexed as

Exome SequencingPharmacogenomic TestingPharmacogenomic VariantsAdultCytochrome P-450 CYP2C19East Asian PeopleFemaleHLA-B15 AntigenHumansMaleMiddle AgedNudix HydrolasesPhenotypePyrophosphatasesTaiwanCytochrome P-450 CYP2C19HLA-B15 AntigenNudix HydrolasesNUDT15 protein, humanPyrophosphatasesCYP2C19G6PDHLA‐B*58:01pharmacogenomicswhole‐exome sequencing

Identifiers

PMID41559003
PMCPMC12819042

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