20 posts
A direct account of WGS applications, from rare-disease diagnosis to pharmacogenomics, plus the file formats, tools, and flags you need to analyze a 30x genome yourself.
How to go from a whole-genome VCF to CPIC-grade star allele diplotypes for CYP2C19, CYP2D6, DPYD, TPMT and others, which callers to run, and the failure modes that make a clean-looking result wrong.
A plain answer to what genetic screening is, how it differs from diagnostic testing, and how to analyze a whole-genome VCF yourself: gene lists, callers, annotation, coverage failure modes, and when you need a clinician.
Pharmacogenetic testing predicts how fast you metabolize certain antidepressants. How to call the star alleles yourself, and where the calls fail.
A technical account of pharmacogenetic panels, whole-genome sequencing, and the files they produce: coverage requirements, star-allele calling, CYP2D6 copy number, and where prices land in 2026.
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.
What pharmacogenomic panels like GeneSight measure, what the trial data show, how to read CYP2D6 and CYP2C19 from your own genome, and what serum drug levels can and cannot tell you.
How to get pharmacogenomic (PGx) results at home, why sequencing beats the saliva-kit panels for most genes, and how to run PharmCAT, Aldy, and HLA typing over your own data without over-reading the output.
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. Covers panel versus genome, variant classes short reads miss and when a clinician is needed.
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.