296
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Changes
NGS
,→Challenges
* CNV and other haplotype calling is challenging due to short read. NGS requires ''in silico'' CNV and haplotype estimation. Haplotype calling can e.g. be performed by [http://faculty.washington.edu/browning/beagle/beagle.html Beagle] or [http://dx.doi.org/10.1038/ng.3679 Eagle2].
* Variants in homologous regions are hard to capture. Notably, the genes CYP2D6 and CYP2A6 are challenging. The CYP2D6 genotyping tool used by PharmCAT is [https://www.nature.com/articles/npjgenmed201639 Astrolabe].
* HLA-typing require special software, e.g. [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) or [https://doi.org/10.1371/journal.pone.0064683 SNP2HLA] for WGS where only the VCF is accessible.
==Solutions==
