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0 points331c8c7116d ago0 comments

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.

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dmckinno6d ago

OpenAI beat me to the punch in publishing on this, but my results are similar. I hope that these convince you :-)

https://openai.com/index/diagnose-rare-childhood-diseases/

dmckinno16d ago

> 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.

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