NGS
Revision as of 15:08, 13 August 2018 by 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...")
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.