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Claude Science

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Re: Claude Science

#151

Earlier quoted context omitted.

Scientific research is suffering from a reproducibility crisis. Not a publication crisis. LLM's aren't going to solve reproducibility issues.

It seems to me that LLM's could massively improve reproducibility issues if journals would require that the papers be reproducible by model X using a standardized prompt in < N minutes, etc...

Sorry, how would that work for literally any non-computational science? You just can't submit papers that involve actual reality?

Re: Claude Science

#152

I watched the announcement and gave it a spin as I'm a heavy user of cowork/code. So far I'm super impressed. I used it to analyze my whole genome sequencing data I have as my son has a rare genetic condition. I used it to answer a question I'd asked a few bioinformaticians to help me with but never got a satisfactory answer, it solved it in about a minute - whether his n-of-1 de novo, heterozygous single nucleotide…

Not sure how to feel about this. I think its super cool that you can dive into this, but it sucks that its your son that has this condition for which you have to do this analysis. I hope it all turns out well. Quick question: where did you get your genome read and get the raw files? As far as I know, as service like 23andme does not give you back the raw files.

Thanks for the kind words. Actually we got the trio whole genome sequencing through our neurologist/geneticist a couple of years ago. It was performed by a company called GeneDx. They interpreted the data at the time which is how we got to a diagnosis but knowing I'd want to dive in to it later I asked for the raw data. They provided it as the raw CRAM files and also the VCF (variant call files) which are a bit smaller. But each company has its own pipeline and for example uses different versions of the reference human genome which made working with the data quite hard for me and the people I enlisted. Claude Science seemed to make very easy work of it. Also to be clear, the question I was trying to answer was whether his mutation was likely passed down through my sperm or mom's egg - neither of us have the mutation in our own genomes. Turns out spontaneous (de novo) mutations are much more common in sperm because Spermatogonial stem cells have undergone many more cell divisions over their lives. Everyone has de novo mutations (70+), one of his just happens to be in an unlucky location.

GeneDx aren't direct to consumer so you'd need to get it ordered through a physician but there are some DTC options for example, Dante Labs, Nebula Genomics, Sequencing.com but I can't speak to the quality of their testing.

23andMe doesn't do whole genome or whole exome sequencing. They use a microarray technology that tests for about 650,000 single nucleotide polymorphisms. You can actually download the your raw data on 23andMe and do your own analysis or use a tool like promethease.

I'm an MD so I'm quite comfortable exploring this data and whatever it uncovers. Tools like Claude Science are going to put a lot of power in the hands of every day people, potentially outside the guidance of genetic counseling/docs, which many organizations in the past (including the FDA) have been hesitant to allow.

Re: Claude Science

#154

I watched the announcement and gave it a spin as I'm a heavy user of cowork/code. So far I'm super impressed. I used it to analyze my whole genome sequencing data I have as my son has a rare genetic condition. I used it to answer a question I'd asked a few bioinformaticians to help me with but never got a satisfactory answer, it solved it in about a minute - whether his n-of-1 de novo, heterozygous single nucleotide…

You're not worried your whole genome is being sent over to some commercial entity?

it's not, the genome is treated locally by tools called by the LLM, the LLM itself can't do much with the raw DNA sequence

Re: Claude Science

#155

Before LLMs the tech groups I followed were ripping with discussions about this and that topic, what to use and when; I believe these discussions sparked the creation of many frameworks and tools out of "this seems like a good idea, wouldn't hurt to implement it". Unfortunately it all resolves around LLMs nowadays and how to make some LLM work some way or another, we don't even discuss the very topics the groups were…

Well LLMs are largely useless and people are realizing that.

Doesn't make sense to fixate on LLMs and not the actual Transformer/attention foundation. The Transformer/attention architecture is the breakthrough, not LLMs. Especially the RLHF chat paradigm is 100% a byproduct. Which is easy to see when you look at how ChatGPT originally came about.

DeepMind has already has had real impact on science with the same foundational architecture as LLMs, for protein folding. They won a Nobel prize for it.

Re: Claude Science

#156

I basically did the same thing almost one and half years ago and not many people cared, but I still believe that this is the future for computational biology. https://celvox.co/solutions/axon

[deleted]

Re: Claude Science

#157

I basically did the same thing almost one and half years ago and not many people cared, but I still believe that this is the future for computational biology. https://celvox.co/solutions/axon

[deleted]

Re: Claude Science

#158

I basically did the same thing almost one and half years ago and not many people cared, but I still believe that this is the future for computational biology. https://celvox.co/solutions/axon

[deleted]

Re: Claude Science

#159

I basically did the same thing almost one and half years ago and not many people cared, but I still believe that this is the future for computational biology. https://celvox.co/solutions/axon

[deleted]

Re: Claude Science

#160

I basically did the same thing almost one and half years ago and not many people cared, but I still believe that this is the future for computational biology. https://celvox.co/solutions/axon

[deleted]
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