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Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure
Henrik Berg Rasmussen1, Thomas Werge
1Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospitals, 2 Boserupvej, DK-4000, Roskilde, Denmark. henrik.berg.rasmussen@regionh.dk
Abstract:
We report the identification of a novel and defective variant of the gene encoding cytochrome P450 2D6 (CYP2D6). This novel variant is a subtype of CYP2D6*6 that was undetected by a commercially available 5' exonuclease-based assay. Because the novel variant was found in only one of 609 individuals, it represents a rare subtype of CYP2D6*6 that may be restricted to a single family or a subpopulation. A procedure for the identification of the novel CYP2D6*6 variant using restriction enzyme treatment of amplified fragments was developed.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
