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Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data.

Numanagić I, Malikić S, Pratt VM, Skaar TC, Flockhart DA, Sahinalp SC - Bioinformatics (2015)

Bottom Line: CYP2D6 genotyping is recommended prior to treatment decisions involving one or more of the numerous drugs sensitive to CYP2D6 allelic composition.In this context, high-throughput sequencing (HTS) technologies provide a promising time-efficient and cost-effective alternative to currently used genotyping techniques.To achieve accurate interpretation of HTS data, however, one needs to overcome several obstacles such as high sequence similarity and genetic recombinations between CYP2D6 and evolutionarily related pseudogenes CYP2D7 and CYP2D8, high copy number variation among individuals and short read lengths generated by HTS technologies.

View Article: PubMed Central - PubMed

Affiliation: School of Computing Science, Simon Fraser University, Burnaby, BC V5A 1S6, Canada, Department of Medicine, Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202, USA and School of Informatics and Computing, Indiana University, Bloomington, IN 47401, USA School of Computing Science, Simon Fraser University, Burnaby, BC V5A 1S6, Canada, Department of Medicine, Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202, USA and School of Informatics and Computing, Indiana University, Bloomington, IN 47401, USA.

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The ambiguous case where two genotypes *6C/*34 (yellow) and *2D/*6B (green) are equally likely. Key c.2850 C > T and c.4180 G > C are too distant to be resolved with the currently available HTS data
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btv232-F4: The ambiguous case where two genotypes *6C/*34 (yellow) and *2D/*6B (green) are equally likely. Key c.2850 C > T and c.4180 G > C are too distant to be resolved with the currently available HTS data

Mentions: One simple example for this is shown in Figure 4Fig. 4.


Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data.

Numanagić I, Malikić S, Pratt VM, Skaar TC, Flockhart DA, Sahinalp SC - Bioinformatics (2015)

The ambiguous case where two genotypes *6C/*34 (yellow) and *2D/*6B (green) are equally likely. Key c.2850 C > T and c.4180 G > C are too distant to be resolved with the currently available HTS data
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4542776&req=5

btv232-F4: The ambiguous case where two genotypes *6C/*34 (yellow) and *2D/*6B (green) are equally likely. Key c.2850 C > T and c.4180 G > C are too distant to be resolved with the currently available HTS data
Mentions: One simple example for this is shown in Figure 4Fig. 4.

Bottom Line: CYP2D6 genotyping is recommended prior to treatment decisions involving one or more of the numerous drugs sensitive to CYP2D6 allelic composition.In this context, high-throughput sequencing (HTS) technologies provide a promising time-efficient and cost-effective alternative to currently used genotyping techniques.To achieve accurate interpretation of HTS data, however, one needs to overcome several obstacles such as high sequence similarity and genetic recombinations between CYP2D6 and evolutionarily related pseudogenes CYP2D7 and CYP2D8, high copy number variation among individuals and short read lengths generated by HTS technologies.

View Article: PubMed Central - PubMed

Affiliation: School of Computing Science, Simon Fraser University, Burnaby, BC V5A 1S6, Canada, Department of Medicine, Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202, USA and School of Informatics and Computing, Indiana University, Bloomington, IN 47401, USA School of Computing Science, Simon Fraser University, Burnaby, BC V5A 1S6, Canada, Department of Medicine, Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202, USA and School of Informatics and Computing, Indiana University, Bloomington, IN 47401, USA.

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