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Comment by breck | Hacker News Reader

I believe there are services that will do whole genome seq for you for under $10k(and I assume won’t keep your data). You could then use Promethease for analysis.

I’m unaware of any way you could do self-DNA testing at home unless you wanted to spend $100k+ on equipment, reagents, etc. The Nanopore might be relevant but I haven’t looked into it much.

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Full Genomes Corporation[1] will do WGS at 30x for $1295, WGS at 20x for $900, and Long Read WGS (newer technology) for $2900.

For Prime Day, Dante Labs[2] had a sale on a 30x WGS for $349; it's still on sale for $499.

Once you have a WGS you might consider donating it to the Harvard Personal Genomes Project[3], Open Humans[4], or putting it on GitHub[5].

[1]: https://www.fullgenomes.com/whole-genome-sequencing/

[2]: https://us.dantelabs.com/products/whole-genome-sequencing-wg...

[3]: https://pgp.med.harvard.edu/

[4]: https://www.openhumans.org/

[5]: https://github.com/beaugunderson/genome

I've purchased a handful of Dante Labs 30x WGS kits on Amazon over the last couple of days. You didn't hear it from me, but the kits are still on sale on Amazon for $349...

... And an additional secret $100 discount during checkout.

This is $250 WGS at 30x coverage. It should be front-page news.

Can you provide a link or more info? I’m not seeing it. It seems to be at $499.

It looks like this listing ended about the same time that I posted about it, or at least in the time between my posting about it and six hours ago. Now there are only $499 kits by third-party sellers. But when there was still FBA inventory (fulfilled by Amazon), it was $349 plus the secret $100 "promotion" discount during checkout.

Are the results of WGS + analysis with promethease more insightful than the results of 23andMe?

Not for me. You obviously have more data, but like 23andme,I found very little of it to be actionable or useful. YMMV

What'd you use to analyze your genome, promethease?

I think that increased risks of x,y,z would be good to be aware of.

Yes, promethease. Have you done 23andme? It also gives you increased risks, but usually none that are helpful. For example, if it says that you have some Snaps that increase your risks of prostate cancer from 1 in 100 to 2in 100, what do you do with that? 2 in 100 is still so low (even though double baseline population risk), that it's not going to effect my decisions. That's also assuming it's accurate -- other SNPs may lower your risk.

I haven't done it because of privacy concerns, but I am considering WGS through a lab then promethease instead.

I don't think understanding risk would affect my decisions much either, but I'd probably get familiar with the symptoms of things I have a higher chance of to be able to recognize issues earlier. If there are screenings available, maybe I'd start doing them a little earlier or more frequently than prescribed.

23andme measures presence / absence of ~1M specific single-nucleotide polymorphism mutations (a SNP is a change in one "letter" of DNA), out of 10M+ total mutations known SNP mutations. Whole genome sequencing reads basically your entire genome, which consists of approximately 3 billion base pairs

so 23andme is like a unit test, and WGS is like the source code for the whole system

that said, we don't really know how to interpret most of the source code, so for a lot of cases (esp those that don't relate to medical treatment or research), 23andme is probably fine

Link? I'm seeing $499 in checkout on Amazon.

Why is Dante much cheaper than Full Genomes?

What's the benefit of "Long Read WGS"?

What's in it for these companies? Seems like there must be a catch

$1000 for the Minion and 2 flow cells. $900 per flow cell after that[0]. For 30x coverage (standard) takes about 15 flow cells[1]. So looking at $12700 to DIY.

[0] https://store.nanoporetech.com/flowcells.html

[1] https://nanoporetech.com/about-us/news/human-genome-minion

I asked myself the same question some weeks ago, and I did a bit of basic research. I didn't keep the sources, but I found there are 2 types of sequencing : "draft" and "full". From what I found, prices are quickly dropping over the past years, and the "draft" sequencing is becoming more complete.

Most likely, 23andMe does a "draft" sequencing.

Also I also read the value of $1000 for a draft sequencing.

I wonder, given there are about 3 millions deaths each year in USA, why isn't there some kind of government sponsored research to collect death people's genomes?

Every year, there would be 3 millions more genomes in database. People already dead don't need to have data protection or insurances risk, and there would be a full health historic and cause of death available for each genomes.

You’ll see 3 things in general:

Genotyping: this is what 23andMe does. Here they’re looking at a few million locations on your genome to see what specific letter you have. These are the locations which are most typically different in humans

Whole Exome Sequenckng (WES): full sequencing of your Exome. this is an oversimplification but the Exome has historically been viewed as where the “useful” DNA

Whole Genome Sequencing (WGS): what the name implies. Can be quite useful in cancer and rare disease research, and were increasingly realizing how much of an oversimplification my explanation of WES is

Almost all commercial “sequencing” that you see advertised is genotyping. And in the real sequencing world WES dominates WGS. In both cases it is due to cost. There are also a ton of options on all of these, such as how many SNPs are on the SNP chip in the genotyping case, or depth of coverage for WES/WGS

It’s also extremely easy to introduce human error into this process unless you’ve had a lot of practice.

You could do it at Stanford or Iowa State for like $3k ? You would still have to prep the samples.

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