Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing
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Title
Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing
Authors
Keywords
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Journal
Frontiers in Pharmacology
Volume 14, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2023-06-24
DOI
10.3389/fphar.2023.1195778
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- (2022) Wendy Y. Wang et al. Journal of Personalized Medicine
- Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing
- (2022) Yekai Zhou et al. BMC BIOINFORMATICS
- StellarPGx: A Nextflow pipeline for calling star alleles in cytochrome P450 genes
- (2021) David Twesigomwe et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
- (2021) Xiao Chen et al. PHARMACOGENOMICS JOURNAL
- Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization
- (2021) Amy J. Turner et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation
- (2021) Andrea Gaedigk et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Targeted nanopore sequencing with Cas9-guided adapter ligation
- (2020) Timothy Gilpatrick et al. NATURE BIOTECHNOLOGY
- Physicochemical Properties, Biotransformation, and Transport Pathways of Established and Newly Approved Medications: A Systematic Review of the Top 200 Most Prescribed Drugs vs. the FDA-Approved Drugs Between 2005 and 2016
- (2019) Anitha Saravanakumar et al. CLINICAL PHARMACOKINETICS
- Long-Read Sequencing Emerging in Medical Genetics
- (2019) Tuomo Mantere et al. Frontiers in Genetics
- Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
- (2019) Zhibiao Mai et al. HUMAN GENETICS
- PharmVar GeneReview: CYP2D6
- (2019) Charity Nofziger et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles
- (2019) Andrea Gaedigk et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications
- (2019) Yusmiati Liau et al. PHARMACOGENOMICS
- Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model
- (2018) Seung-been Lee et al. GENETICS IN MEDICINE
- Accurately genotyping CYP2D6: not for the faint of heart
- (2018) Charity Nofziger et al. PHARMACOGENOMICS
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
- (2018) Ibrahim Numanagić et al. Nature Communications
- Frequency of CYP2D6 Alleles Including Structural Variants in the United States
- (2018) Andria L. Del Tredici et al. Frontiers in Pharmacology
- Detection and visualization of complex structural variants from long reads
- (2018) Zachary Stephens et al. BMC BIOINFORMATICS
- Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing
- (2017) Yao Yang et al. PHARMACOGENOMICS
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- (2017) Mircea Cretu Stancu et al. Nature Communications
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes
- (2016) Victoria M. Pratt et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Long-read sequencing and de novo assembly of a Chinese genome
- (2016) Lingling Shi et al. Nature Communications
- CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6*15 and *35 Genotyping
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- 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
- Cypiripi: exact genotyping ofCYP2D6using high-throughput sequencing data
- (2015) Ibrahim Numanagić et al. BIOINFORMATICS
- SNP genotyping using TaqMan® technology: the CYP2D6*17 assay conundrum
- (2015) Andrea Gaedigk et al. Scientific Reports
- Challenges in CYP2D6 Phenotype Assignment from Genotype Data: A Critical Assessment and Call for Standardization
- (2014) J. Hicks et al. CURRENT DRUG METABOLISM
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
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