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The SNVs of the two pseudogenes,\n                    <jats:italic>CYP2D7<\/jats:italic>\n                    and\n                    <jats:italic>CYP2D8<\/jats:italic>\n                    , were also comprehensively characterized.\n                    <jats:italic>CYP2D6 CNVs<\/jats:italic>\n                    were inferred using\n                    <jats:italic>CYP2D7<\/jats:italic>\n                    as a reference gene, integrating read-depth measurements with allele-frequency (AF) ratios. The entire\n                    <jats:italic>CYP2D<\/jats:italic>\n                    locus (\u2009~\u200930.2Kb) and the three homologous genes separately (6.3\u20136.6Kb) were sequenced using Oxford Nanopore sequencing. Our analysis identified 21\n                    <jats:italic>CYP2D7<\/jats:italic>\n                    and 17\n                    <jats:italic>CYP2D8<\/jats:italic>\n                    unique haplotypes, and 57% of the SNVs detected in the pseudogenes had nucleotides corresponding to\n                    <jats:italic>CYP2D6<\/jats:italic>\n                    reference nucleotides. A total of 36 variants found within the pseudogenes have also been annotated as functional variants in the\n                    <jats:italic>CYP2D6<\/jats:italic>\n                    gene. The combined\n                    <jats:italic>CYP2D6<\/jats:italic>\n                    :\n                    <jats:italic>CYP2D7<\/jats:italic>\n                    read-count ratio and reference-to-alternative alleles AF ratio accurately predicted\n                    <jats:italic>CYP2D6<\/jats:italic>\n                    CNV status. This method is simple and rapid, making it potentially suitable for clinical implementation of pharmacogenomics.\n                  <\/jats:p>","DOI":"10.1038\/s41397-026-00429-x","type":"journal-article","created":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:55:48Z","timestamp":1787770548000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene"],"prefix":"10.1038","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5185-8483","authenticated-orcid":false,"given":"Kiflu Gebremicael","family":"Tesfamicael","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Musker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Adelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin David","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,26]]},"reference":[{"key":"429_CR1","doi-asserted-by":"publisher","first-page":"534","DOI":"10.3109\/09540261.2013.825581","volume":"25","author":"A Gaedigk","year":"2013","unstructured":"Gaedigk A. 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