Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population
Authors
Keywords
-
Journal
JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-05
DOI
10.1038/s10038-020-0815-x
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Long-Read Sequencing Emerging in Medical Genetics
- (2019) Tuomo Mantere et al. Frontiers in Genetics
- PharmVar GeneReview: CYP2D6
- (2019) Charity Nofziger et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications
- (2019) Yusmiati Liau et al. PHARMACOGENOMICS
- Standardizing CYP 2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group
- (2019) Kelly E. Caudle et al. CTS-Clinical and Translational Science
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Accurately genotyping CYP2D6: not for the faint of heart
- (2018) Charity Nofziger et al. PHARMACOGENOMICS
- GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes
- (2018) Tomoko Yoshihama et al. Oncotarget
- Functional characterization of 40 CYP2B6 allelic variants by assessing efavirenz 8-hydroxylation
- (2018) Takashi Watanabe et al. BIOCHEMICAL PHARMACOLOGY
- Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing
- (2017) Henk P.J. Buermans et al. HUMAN MUTATION
- Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing
- (2017) Yao Yang et al. PHARMACOGENOMICS
- Functional characterization of wild-type and 24 CYP2D6 allelic variants on gefitinib metabolism in vitro
- (2017) Ping Fang et al. Drug Design Development and Therapy
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- Prediction of CYP2D6 phenotype from genotype across world populations
- (2016) Andrea Gaedigk et al. GENETICS IN MEDICINE
- Human genetic variation database, a reference database of genetic variations in the Japanese population
- (2016) Koichiro Higasa et al. JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Phased diploid genome assembly with single-molecule real-time sequencing
- (2016) Chen-Shan Chin et al. NATURE METHODS
- Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
- (2016) Greyson P Twist et al. npj Genomic Medicine
- Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6
- (2015) Wanqiong Qiao et al. HUMAN MUTATION
- CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification
- (2015) Andrea Gaedigk et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Characterization of the Ala62Pro polymorphic variant of human cytochrome P450 1A1 using recombinant protein expression
- (2015) Seung Heon Lee et al. TOXICOLOGY AND APPLIED PHARMACOLOGY
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- Functional Characterization of Wild-type and 49 CYP2D6 Allelic Variants for N-Desmethyltamoxifen 4-Hydroxylation Activity
- (2014) Yuka Muroi et al. Drug Metabolism and Pharmacokinetics
- Functional influence of human CYP2D6 allelic variations: P34S, E418K, S486T, and R296C
- (2013) Joohwan Kim et al. ARCHIVES OF PHARMACAL RESEARCH
- Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset
- (2013) A. S. Gordon et al. HUMAN MOLECULAR GENETICS
- Chiral analyses of dextromethorphan/levomethorphan and their metabolites in rat and human samples using LC-MS/MS
- (2011) Ruri Kikura-Hanajiri et al. ANALYTICAL AND BIOANALYTICAL CHEMISTRY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Limited effects of frequent CYP2D6*36-*10 tandem duplication allele on in vivo dextromethorphan metabolism in a Japanese population
- (2010) Kazuma Kiyotani et al. EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- An ultra performance liquid chromatography–tandem MS assay for tamoxifen metabolites profiling in plasma: First evidence of 4′-hydroxylated metabolites in breast cancer patients
- (2010) E. Dahmane et al. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- CYP2D6 Genotyping for Functional-Gene Dosage Analysis by Allele Copy Number Detection
- (2009) N. Hosono et al. CLINICAL CHEMISTRY
- Two Novel CYP2D6*10 Haplotypes As Possible Causes of a Poor Metabolic Phenotype in Japanese
- (2009) M. Matsunaga et al. DRUG METABOLISM AND DISPOSITION
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started