But I do want to sequence it using a third-party that gives me all the raw data. I live in Europe and I'm just a simple consumer. Does anyone know how I can do this? What service would I use / you can recommend?
Them not keeping it on their side would be a huge bonus of course but not sure I can ask for that much.
What kind of magic is going on here, am I missing something?
$100 to stave off that $10000 sewer replacement for a few years would be worth it to a lot of people
> "I have a VCF, I can run it through tools like VEP, ClinVar, gnomAD, PharmGKB (highly recommend), Gene Inspector, or Claude"
I am assuming my data is now within the hands of some of the very entities I do not want to have access to my data ... true?
If you want it quick and cheap(er) - 599.00
But also: genetic counselling is a real thing that real people study. Please don't ask an LLM questions about what your genes are going to do to you without having access to someone who has the ability to contexualise the data and put you in touch with relevant experts. I have a PhD in this and I would not trust myself to be able to interpret data about myself in a detached and rational way.
(And: why is the link to Molecular Biology of the Cell to the 6th edition, when the 7th came out 4 years ago? Random fact: the first three editions were co-authored by my supervisor during my first PhD attempt, who went on to demonstrate that Roger Penrose's ideas about the importance of microtubules in chemotaxis in E. coli were absolute bullshit. Great guy)
[1] I spent a while analysing very early (by commercial standards) Illumina data in 2007, and being able to align stuff to reference genomes made it possible to identify certain biases. Nanopore technology is likely to have more of those, and if you don't have the ability to take those into account you may have a very bad time
[Edit: Apparently no. That link is by Seth Howes, who also shared the OP post though: https://x.com/SethSHowes/status/2074231119730430203 ]
Hmm, I'll come back in a few years when things have become cheaper.
There must be some cool way to share enough structure with some cryptography to share parts of your dna to find relatives etc
https://en.wikipedia.org/wiki/Glowing_Plant_project
By the by, can't seen to bring up the actual site linked on this post.
Seems like maybe of the 3 dystopias: AI, Global Warming, Bio-warfare. That this is demonstrating that the home grown virus is closer than we think.
Fuck this
Ok. So ... how exactly is this valuable?
If you realise "hey, I gots Huntington disease", this is going to make you feel better? Or any other incurable disease? I am not disputing that knowing the sequence is useless in general, mind you. I am specifically asking WHY it is necessary to know your genome sequence. This seems to be a simplification or just a "having reached a milestone". But then they don't really explain WHY it is useful. None of the bulletin points he listed is really useful:
> Which variants do I have?
And this is useful ... how exactly?
> Which genes and pathways are affected?
And ... this matters why?
> Which medicines might I metabolize differently?
Ok, so this has a potential use case here, since he can choose to avoid specific drugs. How useful that really is in practice is unclear. (Don't confuse drug companies trying to convince YOU that personalized medicine is important on THEIR use case.)
> What rare variants should I take seriously?
Seriously ... how? Ok, you avoid some compounds. Now what.
> Where does the model know nothing yet?
Great, so a model that is limited, but now I need to burden myself with having to know where that limitations are. So my brain just has extra processing to do, without getting anything useful in return.
> the “edit yourself with CRISPR” will most likely follow
Except that they have not solved the off-target cleavage yet. Besides, they milk the prices anyway. DNA manipulation should be safe, secure, correct and affordable. None of that is the case right now. They publish papers where CRISPR has solved everything, but then fail to explain why it isn't already used by billions. And there are reasons as to why.
> Give your genome to Claude Code
Oh my god ... AI becomes your dependency here.
Note that the step-by-step guide is actually not totally useless, as it can give a basis for real work. But I highly doubt that untrained people will easily be able to go through those steps. Everyone is a master in the lab now? RNA is easy to handle? Guess then one would have to explain why RNase A is used (ok ok it's not playing a huge role here since DNA is the target of isolation, but it is more of an example of how many things can go wrong, and there is not really an explanation of why xyz is used; this looks like an AI step-by-step guide. AI really makes people dumber).