Difference between revisions of "NGS"
Farmakorakel (talk | contribs) (Created page with "Next Generation Sequencing (NGS) is an interesting technology for PGx A nice overview of the [https://doi.org/10.2217/pgs-2016-0023 Requirements for comprehensive pharmacogen...") |
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Next Generation Sequencing (NGS) is an interesting technology for PGx | Next Generation Sequencing (NGS) is an interesting technology for PGx | ||
| − | A nice overview of the [https://doi.org/10.2217/pgs-2016-0023 Requirements for comprehensive pharmacogenetic genotyping platforms] was published by | + | A nice overview of the [https://doi.org/10.2217/pgs-2016-0023 Requirements for comprehensive pharmacogenetic genotyping platforms] was published by ''Volker Lauschke et al.'' They claim that rare variants account for 30-40% of functional variability in PGx. However they argue that pre-emptive PGx should only include validated variants. |
==Challenges== | ==Challenges== | ||
| − | * Short read NGS requires a priori knowledge of likelihood of particular haplotypes. | + | * Short read NGS requires a priori knowledge of likelihood of particular haplotypes. ''In silico'' haplotype estimation can e.g. be performed by [http://faculty.washington.edu/browning/beagle/beagle.html Beagle]. |
* Variants in homologous regions are hard to capture. | * Variants in homologous regions are hard to capture. | ||
Revision as of 15:11, 13 August 2018
Next Generation Sequencing (NGS) is an interesting technology for PGx
A nice overview of the Requirements for comprehensive pharmacogenetic genotyping platforms was published by Volker Lauschke et al. They claim that rare variants account for 30-40% of functional variability in PGx. However they argue that pre-emptive PGx should only include validated variants.
Challenges
- Short read NGS requires a priori knowledge of likelihood of particular haplotypes. In silico haplotype estimation can e.g. be performed by Beagle.
- Variants in homologous regions are hard to capture.
