91–100 of 138 posts
My first son will be born in 2 months and I must say, between stories like this and others that I learned in antenatal classes - I have never been more terrified in my life
None of us really know what to do!
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Earlier quoted context omitted.
This sort of thinking is incredibly dangerous to society at large, to say nothing of the danger to your own heart and soul. Character, beauty, love, sacrifice. Every one of these involves pain and it makes life worth living. You can't avoid pain, so you might as well engage it in service of those you hold dear. You should very much care about society wielding a sword like this, because historically we do not wield it…
The sword being just deciding which embryos you will raise? It's very easy to demand or promote sacrifices you expect other people to make. But I don't find that to be very empathetic. I've already seen how society is when we shame and hand-wring about the personal decisions others make, and it's not one I want for my kids. At some point you need to be satisfied with your own decisions and then let other people make…
I can be both satisfied with my decisions and still wish better for my neighbor; these are not mutually exclusive.
I am not saying, don't choose between embryos. I'm saying, be careful because it's a slippery slope and not a slide you want to ride.
Earlier quoted context omitted.
This sort of thinking is incredibly dangerous to society at large, to say nothing of the danger to your own heart and soul. Character, beauty, love, sacrifice. Every one of these involves pain and it makes life worth living. You can't avoid pain, so you might as well engage it in service of those you hold dear. You should very much care about society wielding a sword like this, because historically we do not wield it…
There really is no point in leaning into avoidable pain. Pain does not "make you stronger". Pain is not "beauty". These are all bullshit tropes invented by abusers to keep people from questioning things.
It's easy to hand wave the question of pain away, but much wiser men than you and I have arrived at very different conclusions than you suggest.
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…
the framing of "the llm tricked you into thinking you discovered something" while technically true in many cases, very strangely casts the positive outcome of a person being linked in a very engaged manner to something they wouldn't otherwise know or found out into something to be looked down on, and sort of just discourages people from trying stuff themselves that wouldn't be possible for them without something like an agent. it's okay if someone else already found the thing. for areas like science and research, it's actually a good thing if something you did repeated the work of someone else. it validates the original piece of work, and it tells you the things you were trying were on the right track to begin with.
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…
While I am truly grateful for him and the team for their contributions to neonatal genetics (and hosting me in San Diego for a few days to show me how I could help), Rady was actually the unnamed lab that failed to diagnosis my son.
And this happens all the time. The WGS NICU diagnostic rate is only ~30%, depending on who you ask. Just because people have been working at this for a decade and products exists, doesn't mean it's a solved problem.
I don't know if you read until the end of my post, but I did run a small experiment in collaboration with an academic geneticist and outperformed the first-line clinical labs across the board. My approach, which is essentially Claude Code for genetics, is fundamentally different and novel than how this work is done today and seems to perform much better in early experiments. Time will tell is this generalizes to all clinical work.
I'm planning on publishing evals and benchmarks in the next few weeks, but out-of-the-box systems actually don't do very well for a variety of reasons.
Earlier quoted context omitted.
"the thing HN is interested in". Really though? We're talking about a deep human experience here. I don't know about HN as a whole but I personally come out of this much more touched about the human side of the story and how someone's life events can tremendously change their paths and goals than the LLM itself.
Same. And the insight of having used LLMs and it being so capable is a wtf moment for me in itself. And I am an AI engineer. It’s my job to have a good idea about how far these models can take us.
Are you saying that, as an 'AI engineer', you were unaware that LLMs could be used to interpret genetic variants? A thing that Google has been publishing on for well over 10 years?
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…
Aside from the sad life events, little information is shares about his "system", the thing HN is interested in. Is this more than a harness built on top of a SOTA commercial LLM?
I'm planning on getting one out in the next few weeks characterizing the system and how it performed on real clinical use-cases vs. alternatives and existing tools.
The TL;DR is that Gamow Labs is a harness and interface company on top of SOTA LLMs as you suggested, but my harness and interface outperforms the existing thing. While this approach would have earned me the "wrapper company" label last year, I hope the success of OpenEvidence, Harvey, Perplexity, and so on has opened minds with respect to the value here.
It was only working through clinical cases that I realized how much more I needed beyond dropping raw reads into Codex.
Huh, this is fascinating. My wife and I did IVF with WGS in order to find a much less catastrophic shared genetic condition[0]. We have the FASTQs for my parents, and brother, and my wife and me, and our daughter (and our other embryos) and I've run it through the standard Opus[1] (since 4.5) and none have contradicted our genetic counselors or IVF doctors. This is an interesting, and devastating, condition far more…
If you are open to chatting about your experience, I'd love to hear from you. I spend a lot of time learning from and supporting other rare disease families these days.
And the anti-natal thing was kind-of joking not joking. I do know lots of people with kids there now, but when my wife first got pregnant, we were alone.