Martin Lewis

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

Abstract 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 comprehensiv...