Not particularly connected but for anyone interested in analyzing their DNA:
You may get your somehow accurate (not: medical grade accurate) raw DNA sequence from Ancestry DNA kit. Why from
Ancestry and not other similar services like 23andme? Because they probably have the best accuracy for the money.
You may then submit your DNA code to https://promethease.com/ that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.
You may learn a few things about yourself and your kids, which may also include severe conditions which could unfold in the future.
Without commenting on the risks vs. rewards of sharing your genetic material, services like Nebula Genomics have reasonably priced (USD$249 30x, USD$899 100x) sequencing that's extremely high quality and suitable for getting into learning bioinformatics, if you're willing to wait for a few months and that's your jam (i.e. the data is sufficiently deep and full coverage that you can get meaningful results from it as opposed to the limited view of SNP analysis like 23andme or ulta-low-depth sequencing).
The last frontier for consumer/prosumer genomics is hifi sequencing for correctly getting at your hard-to-read areas that are full of long repeated runs. Dante Labs offers sequencing that targets this for about USD$1900, but it's an evolving area in terms of bang for your buck.
Maybe an odd question, but — given modern technology, if you were a bio lab tech and bioinformaticist yourself, would it be practical to just order some used equipment off eBay and build yourself a home DNA sequencing setup?
And if so, would it then just be a matter of time and effort (rather than equipment and materials cost) to do a more thorough sequencing of your own DNA than any lab would ever be willing to do for you?
Your issues are that you will still need to purchase reagents from the sequencing instrument vendor. They will try and push you toward a service contract.
Each kit will cost ~$600 (cheapest kit) an old Illumina sequencer which you can still buy reagents for will cost at least $5000.
Doing a whole genome this way would be expensive… I’d guess $10K to $20K perhaps? You’d need a lot of kits… or one of the high spec sequencers (NextSeq 550 etc).
Alternatively you could look at getting a nanopore sequencer. This will be cheap but the data quality is different (and may not be comparable/require high coverage for certain applications). I’d guess you could do a (30x) whole genome for <$10K all inc here?
Ah, but what if you were also a biochemist, and so you wanted to vertically integrate your amateur gene lab by making your own reagents? Because I'm guessing that those $600 kits don't really have a $600 BOM...
The problem with Nanopore (which I've used for some projects) is that the per-base accuracy is still quite low. This can be helped to a degree by either high coverage (basically sequencing the same area over and over again with the hope that the errors are stochastic and will be corrected if you take the "average" base at each position) or combining it with shorter read but higher quality data from Illumina.
AFAIK the cost of consumables are amortized by doing a few people’s DNA sequencing in quick succession. Low cost suppliers like Dante Labs will run specials where you agree to wait longer and they’ll fit you in with a batch with other people who will pay extra for faster results. Oxford Nano-pore will sell a kit that I think is $1K but the training on how to use it is a lot more. Hopefully technology will keep getting better.
Dante doesn't and these companies use labs everywhere. Dante may even lose your sample and may give you the wrong data, it used labs in Italy so your data is (not) safe in the "best" way possible. Dante takes longer as well. My friend used them, I don't think you can choose the lab.
Your info is woefully outdated. Promethese was sold and doesn't have good data, last I checked it had only old papers and outdated GWAS. Neither of them are the best accuracy for the money. Dante labs and nebula labs have real 100% 30x not the crap 5% ancestry and 23andme have.
One needs to remember about incentives here. Nebula or similar benefits from having you as a client. Most likely than not they would overplay the relevance and the actionability of the variants they report.
I've got a startup in this field in Australia. We're still working on the retail pipeline but we're up and running for bespoke cases. We deal mostly with IVF, and then stuff like CVD, and rare diseases. WGS, Methylation...
I've got a startup in this field in Australia. We're still working on the retail pipeline but we're up and running for bespoke cases. We deal mostly with IVF, and then stuff like CVD, and rare diseases. WGS, Methylation...
You may get your somehow accurate (not: medical grade accurate) raw DNA sequence from Ancestry DNA kit. Why from Ancestry and not other similar services like 23andme? Because they probably have the best accuracy for the money.
You may then submit your DNA code to https://promethease.com/ that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.
You may learn a few things about yourself and your kids, which may also include severe conditions which could unfold in the future.
Sample report:
https://files.snpedia.com/reports/promethease_data/promethea...
Disclaimer: sharing your DNA is always risky