Difference between revisions of "NGS"
Farmakorakel (talk | contribs) |
Farmakorakel (talk | contribs) |
||
| Line 1: | Line 1: | ||
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 ''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. | + | 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, and rare variants should be investigated only when the patient experience unexpected drug response. |
==Challenges== | ==Challenges== | ||
Revision as of 08:31, 14 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, and rare variants should be investigated only when the patient experience unexpected drug response.
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.
- HLA-typing require special software, e.g. Polysolver for whole exome sequencing or OptiType for whole genome sequencing
