NGS

Revision as of 15:11, 13 August 2018 by Farmakorakel (talk | contribs)

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.