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    Online Resource
    Online Resource
    Future Medicine Ltd ; 2017
    In:  Pharmacogenomics Vol. 18, No. 7 ( 2017-05), p. 673-685
    In: Pharmacogenomics, Future Medicine Ltd, Vol. 18, No. 7 ( 2017-05), p. 673-685
    Abstract: CYP2D6 is one of the most studied enzymes in the field of pharmacogenetics. The CYP2D6 gene is highly polymorphic with over 100 catalogued star (*) alleles, and clinical CYP2D6 testing is increasingly accessible and supported by practice guidelines. However, the degree of variation at the CYP2D6 locus and homology with its pseudogenes make interrogating CYP2D6 by short-read sequencing challenging. Moreover, accurate prediction of CYP2D6 metabolizer status necessitates analysis of duplicated alleles when an increased copy number is detected. These challenges have recently been overcome by long-read CYP2D6 sequencing; however, such platforms are not widely available. This review highlights the genomic complexities of CYP2D6, current sequencing methods and the evolution of CYP2D6 from allele discovery to clinical pharmacogenetic testing.
    Type of Medium: Online Resource
    ISSN: 1462-2416 , 1744-8042
    Language: English
    Publisher: Future Medicine Ltd
    Publication Date: 2017
    SSG: 15,3
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