Tag: pharmacogenomics

A working guide to producing star-allele diplotypes and CPIC phenotypes from your own sequencing data with PharmCAT, Cyrius, and PyPGx, and to reading a commercial PGx report critically.

Whole-genome sequencing processed with PharmCAT and Cyrius gives you more pharmacogenetic information than any branded psychiatric panel, and you keep the data. Here is how to run it and what the evidence supports.

Cash prices for pharmacogenetic panels run from about $50 to over $2,000 for largely the same gene list. Here is what drives the spread, what insurance pays, and how to derive the same star-allele calls from whole-genome data yourself.

A working guide to genetic testing in asymptomatic people: panel vs genome, the variant classes short-read pipelines silently miss, the annotation stack we'd run on our own VCF, and where a clinician is non-optional.

Pharmacogenetic testing reliably predicts how you metabolize a few dozen drugs, and says almost nothing about which antidepressant will work. Here is what the genes cover, how to call the star alleles yourself from whole-genome data, and where the calls break.

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.

Why arrays and consumer health reports fail on rare variants, what to demand from a sequencing provider, and how to run QC and annotation on your own genome.

Self-pay pharmacogenomic panels run roughly $200-$500, Medicare and commercial plans cover them only under narrow conditions, and a single whole-genome sequence answers the same questions permanently. Here is the pricing, the billing codes, and how to run the interpretation yourself.

Pharmacogenomic panels like myDNA and GeneSight genotype a short list of variants and return a color-coded report. Here is what those genes do, how to call the same star alleles yourself from whole-genome sequencing, and where the evidence stops.

Pharmacogenomic panels marketed for ADHD medication selection rest on thin evidence for stimulants. Here is what the genotypes predict, which variants have real pharmacokinetic support, and how to extract them from your own sequencing data.

A working guide to taking a 23andMe/Ancestry export or a whole-genome FASTQ, converting it to an annotated VCF, filtering it sensibly, and knowing which results are real.

A technical account of whole genome sequencing as a data product: coverage and chemistry, file formats, a pipeline we would run, and the questions a genome can and cannot answer.