Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene.

doi:10.1038/s41397-026-00429-x

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Article

Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene.

The pharmacogenomics journal - 26 Aug 2026

Tesfamicael Kiflu Gebremicael, Musker Michael, Adelson David L, Lewis Martin David

Abstract excerpt

We developed an amplicon-based long-read sequencing approach that enables simultaneous detection of CYP2D6 single-nucleotide variants (SNVs) and copy-number variations (CNVs) in a single reaction. The SNVs of the two pseudogenes, CYP2D7 and CYP2D8, were also comprehensively characterized. CYP2D6 CNVs were inferred using CYP2D7 as a reference gene, integrating read-depth measurements with allele-frequency (AF)...

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Identifiers

PMID: 42649133
DOI: 10.1038/s41397-026-00429-x
PMCID: PMC13518222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.