I have now sequenced my own genome 5 times with an Oxford Nanopore Technologies MinION. This means collecting them from a swab, prepping them for sequencing, running them through a sequencer, then doing analysis over them.
  • gedfromgont@piefed.caEnglish
    2·
    1 month ago

    Oh jeez. I mean very cool one can do this at home (even if still pricey) but the usefulness of this is very much overstated here.

    Quote from the article:

    Which variants do I have? Which genes and pathways are affected? Which medicines might I metabolize differently? What rare variants should I take seriously? Where does the model know nothing yet?

    Aside from the last question, if it were THAT easy to get definite answers, don’t you think someone would have commercialized it already? These questions answered correctly by just sequenced data are what scientists would like to have. But biology, genes, signaling pathways, are hugely complex. I doubt this dude has anywhere near the scientific knowledge to make any sense of this.

    E.g. you got a variant of a gene that makes it more likely for you to get a certain cancer. Well, the increase over healthy people might be less than 1%, so what now? You may never suffer from this at all during your life time.

    If that was the whole reason this dude went through all the effort, then I don’t know what to say. Additionally running it through AI models, have we not learned anything from 23andme selling genetic data? If the whole reason you do this at home is “control over data”, you just missed the whole point when asking Claude why your tummy aches after eating your fav food.

    Edit: additional lmao that shows me this dude has no scientific background

    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.

    The whole text that follows IS essentially a lab protocol. I am a scientist, this is how we note things down. Well, except for stuff like putting gloves on. You don’t need AI to tell you anything here, you just read the protocol and follow it.