5 posts
A technical guide to getting your DNA sequenced without handing the data to a consumer platform: what each tier of testing can resolve, where the error rates live, and how to store and analyze the files yourself.
What array, exome, and whole-genome testing each measure, which files to insist on, and a concrete pipeline for calling and annotating your own variants.
A genome kit is worth buying only if it ships you 30x PCR-free whole-genome sequencing and the underlying files. Here is the spec sheet, the QC commands to run on delivery, and what drugstore DNA kits measure.
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.
A technical comparison of consumer genotyping arrays, clinical panels, and whole-genome sequencing, including the raw file formats each returns and what you can do with them.