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

2026-01-14

Abstract excerpt

<title>Abstract</title> 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 wit...

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Literature Corpus work: 4825bdd6-be47-5a71-89c9-b39dc5d66fd3
DOI: 10.21203/rs.3.rs-8458208/v1

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