11 posts
MTHFR variants are common, their effect on depression risk is small, and the clinically useful signal sits in downstream biochemistry rather than the genotype. How to find your own genotype in a VCF and what to measure instead.
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.
What whole-genome sequencing results contain, which files matter, how to interpret a variant classification, and where the analysis stops and a clinician starts.
What is in a VCF, how to filter it down to variants worth reading, how to read a single variant end to end, and what a negative result does not rule out.
A genome report is a filtered summary built on top of your variant calls. Here is what goes into one, which files matter more than the PDF, and what sequencing costs in 2026.
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.
A working guide to variant interpretation software: what each layer of the stack does, which tools we would use for a personal whole genome, and where the interpretation breaks.
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 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.
A worked walkthrough of what real DNA results look like: array text files, VCF lines field by field, coverage and callability checks, annotation with VEP, and what a 'positive' result does and does not mean.
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.