Article
Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing.
Pharmacogenomics - 1 May 2017
Yang Yao, Botton Mariana R, Scott Erick R, Scott Stuart A
Abstract excerpt
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,...
Topics
- Alleles
- Cytochrome P-450 CYP2D6
- Genetic Variation
- Humans
- Pharmacogenomic Testing
- Polymorphism, Genetic
- Sequence Analysis, DNA