[dmckinno]

It's funny you mention Dr. Kingsmore and Rady.

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.

[331c8c71]

Thanks for the reply. I have read your post but I haven't seen the preprint obviously and without knowing the details I remain skeptical.

> The WGS NICU diagnostic rate is only ~30%, depending on who you ask.

Agreed. It does not automatically mean, however, that it can be significantly improved with better variant interpetation or better analysis of the same wgs data in general sense.

> 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.

Happy to see it. I wish you all the luck and will be the first one praising your solution if I see convincing results.

[dmckinno]

> Agreed. It does not automatically mean, however, that it can be significantly improved with better variant interpetation or better analysis of the same wgs data in general sense.

I wouldn't say anything is automatic or taken for granted, but it is actually relatively common for more thorough reanalysis to uncover something that the first pass missed. I hinted at this in the post, but the reason that this doesn't happen today is human bandwidth.

A core part of my thesis is that that this highly specialized human bandwidth can be scaled with AI.

It may work. It may not work. But I would feel bad if I didn't give it a try.

> Happy to see it. I wish you all the luck and will be the first one praising your solution if I see convincing results.

Appreciate that! Hopefully, they will come.