Article
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.
The Journal of molecular diagnostics : JMD - 1 Apr 2022
Gaedigk Andrea, Boone Erin C, Scherer Steven E, Lee Seung-Been, Numanagić Ibrahim, Sahinalp Cenk, Smith Joshua D, McGee Sean, Radhakrishnan Aparna, Qin Xiang, Wang Wendy Y, Farrow Emily G, Gonzaludo Nina, Halpern Aaron L, Nickerson Deborah A, Miller Neil A, Pratt Victoria M, Kalman Lisa V
Abstract excerpt
Pharmacogenetic tests typically target selected sequence variants to identify haplotypes that are often defined by star (∗) allele nomenclature. Due to their design, these targeted genotyping assays are unable to detect novel variants that may change the function of the gene product and thereby affect phenotype prediction and patient care. In the current study, 137 DNA samples that were previously characterized...
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