Genomic DNA Analysis: What Your Own Genome Can Tell You, and How to Analyze It
A working guide to analyzing your own whole-genome sequence: the file formats, the pipeline we would run, and what the calls support.
10 posts
A working guide to analyzing your own whole-genome sequence: the file formats, the pipeline we would run, and what the calls support.
A practical pipeline for taking raw DNA data — array export, VCF, or CRAM — and turning it into something you can query, annotate, and trust, plus what the file cannot tell you.
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.
The All of Us Research Program stopped returning research DNA results and removed ancestry and trait reports from participant accounts. What you were given, what you never had, and how to get raw genomic data you control.
A practical guide to privacy in DNA testing: why genomes resist anonymization, what to ask a provider before you send a sample, and how to hold raw sequence data safely once you have it.
DNA.Land stopped accepting uploads and shut down its reports. This guide shows how to take the same raw genotype file, convert it to VCF, impute it, annotate it, and decide which remaining upload sites are worth your data.
A technical answer to what makes genetic testing private: who holds the raw files, what the consent terms permit, how re-identifiable the data is, and how to store and analyze a genome yourself.
A technical account of the privacy properties of consumer and clinical DNA testing: what data exists, who holds it, what re-identification attacks work, and a concrete setup for keeping your own sequence data under your control.
HIPAA compliance is a property of the entity holding your data. No sequencing assay has it. What HIPAA covers, and how to take custody of your files.
A working guide to the free DNA upload sites worth using, what each one does with your file, and how to run the same annotation, polygenic scoring, and relative-matching analyses yourself on your own machine.