Aurornis an hour ago

Interesting concept, but between the broken hardware and the way they gave up before getting anything useful this article was rather disappointing:

> Another problem was our flow cell was malfunctioning from the start — only 623 out of 2048 pores were working.

Is this normal for the machine? Is there a better write up somewhere where they didn’t give up immediately after one attempt?

  • homeless_engi 16 minutes ago

    Hi, believe it or not, I have actually done what the authors were attempting. I used saliva rather than blood as a source of DNA and extracted it using a Qiagen kit.

    My Nanopore flow cell had nearly every pore working from the start. So I would say that is not normal. Maybe it was stored incorrectly.

  • sbassi 38 minutes ago

    it depends of the sample. usually you have at least 1200, with a guaranteed of at least 800, so maybe he could ask for a refund.

dunk010 an hour ago

Nebula and Dante will do this for like $300, and you can get 30x coverage at every base or even 100x coverage if you pay a little more. The $1000 genome was here more than a decade ago.

  • zaptheimpaler an hour ago

    I wanted to try this, but I looked into Nebula a bit more.

    Nebula is facing a class action for apparently disclosing detailed genomic data to Meta, Microsoft & Google. The subreddit is also full of reports of people who never received their results years after sending their kits back. There are also concerns about the quality of sequencing and false positives in all DTC genomics testing. Given what happened with 23andme as well and all of this stuff, I'm wary of sending my genetic data to any private company.

    • phyzome 32 minutes ago

      Yeah, the only way I would ever do DNA sequencing is anonymously...

      • 0b110907 a few seconds ago

        It's frustrating but anyone who has your DNA would be able to fairly easily deanonymize you to a degree [1] even if your submission and payment are anon due to the nature of DNA.

        I'd happily pay a premium for a service that would show the controls they have in place to assure data/sample destruction etc.

        [1]https://pmc.ncbi.nlm.nih.gov/articles/PMC10876674/

    • Aurornis 34 minutes ago

      > There are also concerns about the quality of sequencing and false positives in all DTC genomics testing.

      Even when the raw results are accurate there is a cottage industry of consultants and snake-oil sellers pushing bad science based on genetic testing results.

      Outside of a few rare mutations, most people find their genetic testing results underwhelming or hard to interpret. Many of the SNPs come with mild correlations like “1.3X more likely to get this rare condition” which is extremely alarming to people who don’t understand that 1.3 times a very small number is still a very small number.

      The worst are the consultants and websites that take your files and claim to interpret everything about your life or illness based on a couple SNPs. Usually it’s the famous MTHFR variants, most of which have no actual impact on your life because they’re so common. Yet there are numerous Facebook groups and subreddits telling you to spend $100 on some automated website or consultant who will tell you that your MTHFR and COMT SNPs explain everything about you and your ills, along with which supplements you need to take (through their personal branded supplement web shop or affiliate links, of course).

  • freehorse 34 minutes ago

    Yeah but then basically somebody else gets ownership of your genetic data and gets the right to do anything with it in the context of their "legitimate interests". Not to mention to probability of that company getting hacked or sold, as it has already happened with some.

  • sbassi an hour ago

    yes, the difference here is that the $1000 tag is "at-scale price". You reach that price point by running multiple sequencing with a set of reactive.

jasongill an hour ago

Unfortunately, the "MinION Starter Kit" for $1000 appears to no longer be available; the link in the article to the kit goes to a 404 page, and the cheapest MinION device with flow cells is now $4950 USD

  • jolmg 35 minutes ago

    Article was posted 2 days ago...

    • greazy 6 minutes ago

      The article author probably bought the starter kit a while ago. It might explain why the pore count was low. It's a biological product so it degrades over time.

IceHegel 9 minutes ago

Who can do this with good data controls? I don't want to have to dig through the fine print of some Terms of Service page to figure out if a sequencing company is going to save a copy of my genetic code for possible future use.

greazy 7 minutes ago

The thermocycler replacement using an electric kettle is hilarious. Thats how old school dna amplification would happen before the invention of thermocyclers.

coppa an hour ago

Speaking of which I would advise : Svante Pääbo Neanderthal Man: In Search of Lost Genomes then even better imho The Naked Neanderthal by Ludovic Slimak. After these books I spent many hours listening to the full courses of Jean-Jacques Hublin, chaire Paléoanthropologie in college de France ( in french but probably translatable now with automatic features ?). This was an unexpected and wonderful path.

7e an hour ago

Just wait for the Nebula Black Friday sale.

pixelpoet an hour ago

> ‘Sequencing by synthesis’. instead of chopping up and separating each base pair through a gel lattice, we [cuts off]

k

> 200 µL of blood (about ⅕ of a ml)

"About"? Anyway, thanks for the clarification.

  • NuclearPM 6 minutes ago

    Maybe the “about” was supposed to cover the 200 µL as well.