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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Lee Seung-Been, Wheeler Marsha M, Patterson Karynne, McGee Sean, Dalton Rachel, Woodahl Erica L, Gaedigk Andrea, Thummel Kenneth E, Nickerson Deborah A

Abstract excerpt

PURPOSE: Genotyping CYP2D6 is important for precision drug therapy because the enzyme it encodes 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 nonfunctional but highly...

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PMID: 29875422
DOI: 10.1038/s41436-018-0054-0
PMCID: PMC6281872

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