Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.

The Journal of molecular diagnostics : JMD - 1 May 2021

Turner Amy J, Aggarwal Praful, Boone Erin C, Haidar Cyrine-Eliana, Relling Mary V, Derezinski Ashley D, Broeckel Ulrich, Gaedigk Andrea

Abstract excerpt

Cytochrome P450 2D6 (CYP2D6) copy number (CN) variation affects the metabolism of numerous prescribed drugs. Sequence variation within primer or probe target regions of hydrolysis probe CN assays can generate false-positive calls for CN loss. Furthermore, CYP2D6-CYP2D7 hybrids and gene conversions can cause difficult to interpret discordant CN calls. The identification of haplotypes with CN variations and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cytochrome P-450 CYP2D6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Gene Frequency

Share to Haplotypes

Share to High-Throughput Nucleotide Sequencing

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 33631352
DOI: 10.1016/j.jmoldx.2021.01.013
PMCID: PMC8176139

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.PMID 33631352Read ↗

Prevalence of CYP2D6 structural variation in large retrospective study.Semantic proximity Read ↗

Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays.Semantic proximity Read ↗

Frequency of undetected CYP2D6 hybrid genes in clinical samples: impact on phenotype prediction.Semantic proximity Read ↗

CYP2D6*11 and challenges in clinical genotyping of the highly polymorphic CYP2D6 gene.Semantic proximity Read ↗

Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test no-call in the clinical setting.Semantic proximity Read ↗

A novel simple method for determining CYP2D6 gene copy number and identifying allele(s) with duplication/multiplication.Semantic proximity Read ↗

Complexities of CYP2D6 gene analysis and interpretation.Semantic proximity Read ↗

Resolution of a clinical AmpliChip CYP450 Test™ no call: discovery and characterization of novel CYP2D6*1 haplotypes.Semantic proximity Read ↗

Does Next Generation Sequencing (NGS)-Based CYP2D6 Sequencing Improve Genotype-Phenotype Concordance in Tamoxifen-Treated Patients?Semantic proximity Read ↗

Haplotype phasing of CYP2D6: an allelic ratio method using Agena MassARRAY data.Semantic proximity Read ↗

Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing.Semantic proximity Read ↗

Haplotype phasing of <i>CYP2D6</i> : an allelic ratio method using Agena MassARRAY dataSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.