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NGS

4 bytes added, 15:11, 13 August 2018
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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 ''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_ ''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.