Journal
PHARMACOGENOMICS
Volume 20, Issue 14, Pages 1033-1047Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/pgs-2019-0080
Keywords
CYP2D6; gene duplication; GridION; haplotype; nanopore sequencing; pharmacogenetics
Categories
Funding
- University of Otago
- Lottery Health Research (New Zealand)
- Health Research Council of New Zealand
- Jim and Mary Carney Charitable Trust (Whangarei, New Zealand)
- Oxford Nanopore Technologies
Ask authors/readers for more resources
Aim: Long read sequencing offers the promise of overcoming some of the challenges in accurate genotyping of complex genes, along with the advantage of straightforward variant phasing. We have established methods for sequencing and haplotyping of the whole CYP2D6 gene using nanopore sequencing. Materials and methods: 32 samples covering various haplotypes including gene duplication were sequenced on the GridION platform. Results: Haplotypes of 52 alleles matched accurately to known star (*) allele subvariants, with the remaining 12 being assigned as new alleles, or new subvariants of known alleles. Duplicated alleles could be detected by analyzing the allelic balance. Conclusion: Nanopore sequencing of CYP2D6 offers a high throughput method for accurate haplotyping, detection of new variants and determination of duplicated alleles.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available