Article
Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.
Clinical and translational science - 1 Jan 2020
Dalton Rachel, Lee Seung-Been, Claw Katrina G, Prasad Bhagwat, Phillips Brian R, Shen Danny D, Wong Lai Hong, Fade Mitch, McDonald Matthew G, Dunham Maitreya J, Fowler Douglas M, Rettie Allan E, Schuetz Erin, Thornton Timothy A, Nickerson Deborah A, Gaedigk Andrea, Thummel Kenneth E, Woodahl Erica L
Abstract excerpt
The cytochrome P450 2D6 (CYP2D6) gene locus is challenging to accurately genotype due to numerous single nucleotide variants and complex structural variation. Our goal was to determine whether the CYP2D6 genotype-phenotype correlation is improved when diplotype assignments incorporate structural variation, identified by the bioinformatics tool Stargazer, with next-generation sequencing data. Using CYP2D6 activity...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.