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Comment by mgl | Hacker News Reader

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.

Sample report:

https://files.snpedia.com/reports/promethease_data/promethea...

Disclaimer: sharing your DNA is always risky

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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?

https://www.linkedin.com/pulse/art-possible-biohacking-diy-d...

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.

I’ve done this:

https://aseq.substack.com/p/bringing-up-an-old-ebay-miseq

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?

What makes nanopore screening quality worse? Aren't these long read sequencers that are supposed to read more of the DNA strand?

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.

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...

No, but creating these reagents is a lot of work.

Principally create new flowcells coated with an oligo lawn would be difficult. Not impossible… but a non-trivial project…

Will Nebula Genomics share my genetic information with othrr corporations or law enforcement? In what country is the sequencing done?

> Will Nebula Genomics share my genetic information with othrr corporations or law enforcement?

yes, as it is stated in their website they have to comply with U.S. laws.

Complying with subpenas sure, but AFAIK 23andme et al. voluntarily sell access to searching DNA data to law enforcement agencies. Does Nebula do this?

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.

What is the expectation here for the coming years, does it make sense to wait?

I assume this tech moves like most tech and it will only get cheaper like you say but also better. Are we still in the early adopter phase?

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.

Thanks for the update, didn't know they were acquired by MyHeritage in 2019.

23 and me also sold data. GSK also owns the data now. https://cglife.com/blog/23andme-sold-your-genetic-data-to-gs...

Hacked too https://www.theverge.com/2023/10/7/23907330/23andme-leak-hac...

I used Nebula Genomics with lifetime membership to see any new medical research that affects my genes.

Referral link?

Yes, but the type of GWAS-based reports they offer not very well suited to uncover medical conditions like this.

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...

https://www.23strands.com/

Amazing news

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