3 posts
A technical walkthrough of pharmacogenetic star-allele calling from whole-genome data: which genes have real evidence, why CYP2D6 breaks most pipelines, and how to read a diplotype-to-phenotype report without over-trusting it.
Pharmacogenomic testing resolves star alleles in about a dozen drug-metabolism genes and maps them to CPIC phenotypes. Here is what panels cover, why CYP2D6 is the hard part, and how to generate diplotype calls from your own sequencing data.
A technical comparison of PGx testing companies, what their panels genotype, where they fail on CYP2D6 and DPYD, and how to produce CPIC-grade diplotype calls yourself from whole-genome sequencing.