Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

摘要

PurposeGenotyping CYP2D6 is important for precision drug therapy because it metabolizes approximately 25% of drugs and its activity varies considerably among individuals. Genotype analysis of CYP2D6 is challenging due to its highly polymorphic nature. Over 100 haplotypes (star alleles) have been defined for CYP2D6, some involving a gene conversion with its nearby non-functional but highly homologous paralog CYP2D7. We present Stargazer, a new bioinformatics tool that uses next-generation sequencing (NGS) data to call star alleles for CYP2D6 (). Stargazer is currently being extended for other pharmacogenes.