When you download your "raw data" from a testing kit, you get a file that looks intimidating and is actually simple. Strip away the format and it's a long table: for each position the test looked at, which letters of DNA you have there. That's it. The magic isn't in the file, it's in what you compare it against.
What's inside
A consumer genotype file (often a .txt or .csv) usually has four columns per row:
- rsID, a stable name for the position, like
rs762551. - Chromosome, which chromosome it sits on.
- Position, where on that chromosome.
- Genotype, the two letters you carry there, like
A/C.
A clinical .vcf file carries the same idea with more detail, the reference letter, your variant, and quality information. A .fastq goes a level deeper, holding the raw sequence reads themselves.
Why the same file can tell you more later
Your file doesn't change, but what we know about those positions does. A position that meant little a few years ago may now have a well-established trait or drug-response association. That's the single best reason to re-analyse a file you already have: the raw data is fixed, but its interpretation keeps improving.
GeneLab accepts .txt, .csv, .vcf, .fastq, and .zip. You don't need to clean or convert anything, upload the file exactly as you received it.
From file to meaning
GeneLab's job is the comparison step: parse your file, quality-check it, call your variants cleanly, and annotate each one against curated clinical and population databases. The output is a readable report plus a structured export, the same positions you started with, now with meaning attached. See how the pipeline works ›