The post is written almost as if there is no prior art on (germline) variant interpretation. In fact, it is an established niche field with multiple commercial vendors existing for years (and diagnostics for critically ill infants is the most well known use case - google Stephen Kingsmore or Rady's children hospital for one). I'd be surprised if the approach is really something novel at this point. It is definitely t…
> I'd be surprised if the approach is really something novel at this point. this is a very common reaction to people doing things with llms and i think the effects of it can be somewhat insidious. you constantly see people out there vibing their way to something that has already been discovered somewhere else, but they didn't know that and in many cases wouldn't have known how to find that thing even if they did. the…
They have to be useful, otherwise nobody comes back, and used, not just a starting point that can be bypassed after doing it a couple of time. Instead of pointing out to what exists, basically what a search engine does, it "helps" the user by building. It also gives an amazing sense of agency and power, you "do" get something that seems to come out of nothing, conveniently removing provenance and thus make the user feel quite good about the process.
This is especially poignant to me given this anecdote from a friend I shared just days ago https://news.ycombinator.com/item?id=48457842 showcasing how we wrote a Wacom driver, on his own, without being a developer, thanks to Claude, and how he even potentially helped others by sharing back what he "built" only for someone to suggest an already existing project https://news.ycombinator.com/item?id=48459366 .