[blopker]

If anyone is interested in playing with a full 23andMe raw data file (VCF), I have mine on GitHub: https://github.com/blopker/DNA PRs welcome!

If you're also interested in working on this stuff, shoot me an email ;) [e-mail]

[anderspitman]

Keep in mind companies like 23AndMe and Ancestry typically only provide a small fraction of your genome (the parts we currently consider most important, which is a moving target). If you want your whole genome you'll need to go with something like Dante Labs (~200-300USD during sales).

[andy-thomason]

For academic use, UK Biobank, 1000 Genomes and other resources offer variants for large groups, my wife included.

You may (at your own risk) take a look at

https://opensnp.org/

[blopker]

Very cool, thanks for the resource. I see I can upload my own data there too. Probably a more useful place for it than GitHub!

[la_barba]

I'm not an expert but AFAIK VCF isn't "raw" data. Raw data would be the output of a sequencer (fastq) which would be several gigabytes. I recently processed raw data from sequencing a tiny virus (~20k base pairs) and it was around 13GB. Human genome sequence data would probably be tens if not hundreds of GB.

[i000]

23andMe does genotyping not sequencing

[la_barba]

Ah.. okay. I didn't know that. Yes that makes sense now that I think about it. They wont be able to do a full sequencing at their current price.

[lkirk]

Sorry, but that's not a vcf. It's a tsv of genotypes. Here's the spec for VCFs: https://samtools.github.io/hts-specs/VCFv4.3.pdf

[magnamerc]

How far are companies like 23andMe from entire genome sequencing? That's kind of what I'm waiting for. Can you still get valuable data from genotyping?

[jghn]

You can get valuable data from genotyping. SNPs contain the bulk of variation between you & me.

For your first question it depends on your definition of "companies like 23andMe". There are numerous companies that'll do a whole genome for you, but I don't know if any of them do the writeup about it that 23andMe provides. 23andMe did at one time offer an exome product, but stopped that a while back.

The largest hurdle is cost. Whole genomes, even exomes, are significantly more expensive than a SNP chip. As most would be users don't know enough to care it doesn't make much economic sense to offer those to the masses at the moment.

[astazangasta]

Actually about half of variation is private (not common) and commercial services will only look for common SNPs. So you will have some unique variants that would show up in a whole genome but not a SNP test.

[jghn]

True. I was trying to say that your average lay person is unlikely to know the difference enough to be a big deal

[mapmeld]

Veritas Genetics offers full-genome sequencing for 1000 USD. I purchased their kit for 200 in a limited-time offer. Unfortunately when I sent it in early February, there is a backlog which is delaying my results until late this summer.

[whatshisface]

I hope you got all of your kids and relatives to sign off on that, if you have any.