Changes

* Variants in homologous regions are hard to capture (regions with copy number variations (CNV)). Notably, the genes CYP2D6 and CYP2A6 are challenging. The CYP2D6 genotyping tool used by [https://github.com/PharmGKB/PharmCAT/wiki PharmCAT] is [https://www.nature.com/articles/npjgenmed201639 Astrolabe].

* HLA-typing require special software. [https://doi.org/10.1002/cpt.411 Yang et al.] proposed [https://software.broadinstitute.org/cancer/cga/polysolver Polysolver] for whole exome sequencing (WES) or [https://github.com/FRED-2/OptiType OptiType] for whole genome sequencing (WGS). [https://doi.org/10.1101/356204 Reisberg et al.] proposed [https://doi.org/10.1371/journal.pone.0064683 SNP2HLA] for WGS.

==Solutions==