Article
StellarPGx: A Nextflow Pipeline for Calling Star Alleles in Cytochrome P450 Genes.
Clinical pharmacology and therapeutics - 1 Sept 2021
Twesigomwe David, Drögemöller Britt I, Wright Galen E B, Siddiqui Azra, da Rocha Jorge, Lombard Zané, Hazelhurst Scott
Abstract excerpt
Bioinformatics pipelines for calling star alleles (haplotypes) in cytochrome P450 (CYP) genes are important for the implementation of precision medicine. Genotyping CYP genes using high throughput sequencing data is complicated, e.g., by being highly polymorphic, not to mention the structural variations especially in CYP2D6, CYP2A6, and CYP2B6. Genome graph-based variant detection approaches have been shown to be...
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