Ontology highlight
ABSTRACT:
SUBMITTER: Chen X
PROVIDER: S-EPMC7997805 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Chen Xiao X Shen Fei F Gonzaludo Nina N Malhotra Alka A Rogert Cande C Taft Ryan J RJ Bentley David R DR Eberle Michael A MA
The pharmacogenomics journal 20210118 2
Responsible for the metabolism of ~21% of clinically used drugs, CYP2D6 is a critical component of personalized medicine initiatives. Genotyping CYP2D6 is challenging due to sequence similarity with its pseudogene paralog CYP2D7 and a high number and variety of common structural variants (SVs). Here we describe a novel bioinformatics method, Cyrius, that accurately genotypes CYP2D6 using whole-genome sequencing (WGS) data. We show that Cyrius has superior performance (96.5% concordance with trut ...[more]