Article
PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.
Communications biology - 25 Feb 2022
Charnaud Sarah, Munro Jacob E, Semenec Lucie, Mazhari Ramin, Brewster Jessica, Bourke Caitlin, Ruybal-Pesántez Shazia, James Robert, Lautu-Gumal Dulcie, Karunajeewa Harin, Mueller Ivo, Bahlo Melanie
Abstract excerpt
The CYP2D6 enzyme is estimated to metabolize 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest due to the polymorphic nature of the CYP2D6 gene. Accurate allele typing of CYP2D6 has proved challenging due to frequent copy number variants (CNVs) and paralogous pseudogenes. SNP-arrays, qPCR and short-read sequencing have been employed to interrogate CYP2D6, however these technologies...
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