Cas9 targeted nanopore sequencing with enhanced variant calling improves CYP2D6-CYP2D7 hybrid allele genotyping

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

(2021) Xiao Chen et al.   PHARMACOGENOMICS JOURNAL

Clinical CYP2D6 Genotyping to Personalize Adjuvant Tamoxifen Treatment in ER-Positive Breast Cancer Patients: Current Status of a Controversy

(2021) Tessa A. M. Mulder et al.   Cancers

Sequencing of SARS-CoV-2 genome using different nanopore chemistries

(2021) Oscar González-Recio et al.   APPLIED MICROBIOLOGY AND BIOTECHNOLOGY

Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

(2021) Maaike van der Lee et al.   Science Translational Medicine

Nanopore sequencing of a forensic combined STR and SNP multiplex

(2021) Olivier Tytgat et al.   Forensic Science International-Genetics

Sequencing DNA with nanopores: Troubles and biases

(2021) Clara Delahaye et al.   PLoS One

Targeted nanopore sequencing with Cas9-guided adapter ligation

(2020) Timothy Gilpatrick et al.   NATURE BIOTECHNOLOGY

Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population

(2020) Koya Fukunaga et al.   JOURNAL OF HUMAN GENETICS

CRISPR-Cas9 enrichment and long read sequencing for fine mapping in plants

(2020) Elena López-Girona et al.   Plant Methods

Readfish enables targeted nanopore sequencing of gigabase-sized genomes

(2020) Alexander Payne et al.   NATURE BIOTECHNOLOGY

SVIM: Structural Variant Identification using Mapped Long Reads

(2019) David Heller et al.   BIOINFORMATICS

Contemporary pharmacogenetic assays in view of the PharmGKB database

(2019) Laurentijn Tilleman et al.   PHARMACOGENOMICS

Best practices for benchmarking germline small-variant calls in human genomes

(2019) Peter Krusche et al.   NATURE BIOTECHNOLOGY

Pharmacogenomics guidelines: Current status and future development

(2019) Chengxian Guo et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing

(2019) Kornel Labun et al.   NUCLEIC ACIDS RESEARCH

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

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Accurately genotyping CYP2D6: not for the faint of heart

(2018) Charity Nofziger et al.   PHARMACOGENOMICS

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

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

(2016) Michael A. Eberle 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

Enhancing homology-directed genome editing by catalytically active and inactive CRISPR-Cas9 using asymmetric donor DNA

(2016) Christopher D Richardson et al.   NATURE BIOTECHNOLOGY

Real-time selective sequencing using nanopore technology

(2016) Matthew Loose et al.   NATURE METHODS

DMETTM (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine

(2016) Mariamena Arbitrio et al.   Oncotarget

Extensive sequencing of seven human genomes to characterize benchmark reference materials

(2016) Justin M. Zook et al.   Scientific Data

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

(2016) Thomas W. Laver et al.   Scientific Reports

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

Challenges in CYP2D6 Phenotype Assignment from Genotype Data: A Critical Assessment and Call for Standardization

(2014) J. Hicks et al.   CURRENT DRUG METABOLISM

DNA interrogation by the CRISPR RNA-guided endonuclease Cas9

(2014) Samuel H. Sternberg et al.   NATURE

The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction

(2008) M C Rebsamen et al.   PHARMACOGENOMICS JOURNAL