Tag: whole-genome-sequencing

A technical guide to preventive genetic testing: which variants have actionable evidence, why sequencing depth and file format matter, and how to work with your own VCF without over-reading it.

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.

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.

A plain answer to what a genome is, what whole-genome sequencing produces, and how to work with your own FASTQ, CRAM, and VCF files without fooling yourself.

Why genotyping arrays like 23andMe and AncestryDNA answer a narrow question, what whole-genome sequencing gives you instead, and how to work with the files 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.