I wish this had some discussion of the results. The earlier reports about this sensor and process were very mixed. It’s a cool process either way, but I’d like to know how usable the real world output can be.
What is the accuracy in this ? Aka if I run the experiment 10 times how many differences will i get? I don’t have a physical sense on what would be a good number.
This is so cool. Thanks for doing this. The fact that we have this in a palm sized object is just crazy. Also, if/when we have a similar sized device for doing CRISPR .... umm i should stop here - it's becoming the plot of Gattaca
> This is intended to be read by AI- please just copy and paste the URL of this and have ChatGPT walk you through it. If you have AR glasses, even better, since the AI can walk you through the whole protocol.
What kind of magic is going on here, am I missing something?
I've bee thinking about starting a company where I fish roots out of your sewer and identify the plant (by sequence if necessary) that you have to kill so your sewer doesn't collapse as soon as it otherwise would.
$100 to stave off that $10000 sewer replacement for a few years would be worth it to a lot of people
one main marketing leverage of 23andMe, AncestryDNA, etc are fulfilling the curiosity of people who want to know which part of the world their genes are from. I guess that dataset should be preparatory.
The "non-random errors" point buried a few replies down deserves to be the headline, not a footnote. With Illumina, 10x coverage genuinely washes out errors because they're closer to independent per-read noise. With Nanopore, errors cluster at specific motifs (homopolymers, certain k-mers) due to how the pore physically reads the strand — so the same systematic mistake shows up across most of your reads at that position, and naive majority-vote consensus won't fix it. You need a basecaller/consensus model trained to correct for those specific failure modes (which is exactly what the current-gen Guppy/Dorado models try to do), not just "more depth." That distinction matters a lot for a home setup: coverage is cheap, but knowing where your specific errors are systematic vs. random is what determines whether "buy more reads" actually gets you to clinical-grade accuracy or just gives you a very confident wrong answer.
I like the privacy conscious aspects. Apart from the obvious issue of "run it through Claude" how many of those referenced analysis tools are entirely open source or at least run locally? Would have liked to see that in the article.
Bringing everything to your doorstep and everything at your feet and everything near your fingertips is just what all industries are trying to accomplice. The cartoon Animation Wall-E has scenes in it where they show obese humans doing everything through a screen though notice their legs and feet and it's as if they've mutated to a point where they aren't able to walk anymore and all their transport is through a hovering chair cum bed.
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.
> The near-term value is turning a static genome into something queryable
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).
As someone with experience (albeit almost 20 years out of date) experience of wet lab DNA collection and sequencing - this stuff is hard, you will fail a lot, and you will fail a lot more if you don't have an extremely clean environment to do this in. And once you have data, you should be asking yourself how accurate it is given the environment you collected it in, you should be looking at correlated sequence errors that are not taken into account[1].
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
It seems a bit odd to me to have a home lab for the sequencing and then feed it to a cloud LLM. I would have thought the point of the home lab is privacy.
34 comments
[ 4.0 ms ] story [ 49.9 ms ] threadIf you want it quick and cheap(er) - 599.00
Fuck this
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
https://en.wikipedia.org/wiki/Glowing_Plant_project
By the by, can't seen to bring up the actual site linked on this post.
There must be some cool way to share enough structure with some cryptography to share parts of your dna to find relatives etc
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.
The main factor for using myheritage was that they have this cheap 30€ offering at the moment.
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).
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.
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.