Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://www.nature.com/articles/s10038-020-0815-x.pdf
Reference43 articles.
1. Nofziger C, Turner AJ, Sangkuhl K, Whirl-Carrillo M, Agundez JAG, Black JL, et al. PharmVar GeneFocus: CYP2D6. Clin Pharm Ther. 2020;107:154–70.
2. Gaedigk A, Ingelman-Sundberg M, Miller NA, Leeder JS, Whirl-Carrillo M, Klein TE, et al. The Pharmacogene Variation (PharmVar) Consortium: incorporation of the human cytochrome P450 (CYP) allele nomenclature database. Clin Pharm Ther. 2018;103:399–401.
3. Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, et al. Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. NPJ Genom Med. 2016;1:15007.
4. Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, et al. Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Hum Mol Genet. 2014;23:1957–63.
5. Yang Y, Botton MR, Scott ER, Scott SA. Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing. Pharmacogenomics. 2017;18:673–85.
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