Difference between revisions of "NGS"
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Revision as of 15:08, 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.
