A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on <i>CYP2D6</i> genotyping.

ABSTRACT: Genetic variation in genes encoding cytochrome P450 enzymes has important clinical implications for drug metabolism. Bioinformatics algorithms for genotyping these highly polymorphic genes using high-throughput sequence data and automating phenotype prediction have recently been developed. The CYP2D6 gene is often used as a model during the validation of these algorithms due to its clinical importance, high polymorphism, and structural variations. However, the validation process is often limited to common star alleles due to scarcity of reference datasets. In addition, there has been no comprehensive benchmark of these algorithms to date. We performed a systematic comparison of three star allele calling algorithms using 4618 simulations as well as 75 whole-genome sequence sam

SUBMITTER: Twesigomwe D 

PROVIDER: S-EPMC7398905 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature