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Updated: Mar 9, 2026
08:57
Amplicon Sequencing using the Long-Read Sequencing Technologies
Published on: August 29, 2025
605
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing
Henk P J Buermans1, Rolf H A M Vossen1, Seyed Yahya Anvar1
1Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Leiden, 2333ZC, The Netherlands.
Human Mutation
|January 4, 2017
Summary
Accurate cytochrome P450 2D6 (CYP2D6) genotyping is crucial for drug metabolism. This study introduces a novel sequencing method for reliable CYP2D6 diplotyping, variant phasing, and copy-number variation analysis.
Area of Science:
- Pharmacogenomics
- Molecular Diagnostics
- Genetics
Background:
- Cytochrome P450 2D6 (CYP2D6) is vital for drug metabolism, with variants affecting enzyme activity.
- Existing genotyping methods struggle with sequence homology and variant phasing.
- Accurate CYP2D6 genotyping is essential for personalized medicine.
Purpose of the Study:
- To develop a high-quality, full-length sequencing method for CYP2D6.
- To enable accurate variant calling, haplotyping, and copy-number variation analysis.
- To establish a comprehensive CYP2D6 gene-variant database.
Main Methods:
- Sequencing of CYP2D6 using Pacific Biosciences RSII.
- Full-length, phased sequencing of the entire gene locus.
- Development of an LOVD-powered CYP2D6 gene-variant database.
Main Results:
- High-quality, phased CYP2D6 sequences were obtained.
- Accurate diplotyping and haplotyping, including gene duplications, were achieved.
- 61 unique variants were detected, with novel haplotype associations identified.
- Gene deletions required additional specific assays for resolution.
Conclusions:
- The developed CYP2D6 genotyping approach provides reliable diplotypes.
- The method reveals additional variant information, including phasing and copy-number variation.
- This advancement aids genomic analysis and personalized drug therapy.
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