hmm gate keeping the database to elitist institutions and private businesses, I'm excited for the future!
AlphaGenome Atlas: a high-resolution map of human DNA
81–90 of 137 posts
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#82There are AI labs headed by marketing CEOs that fake metrics, have an utter disregard for humanity and make up "AGI is imminent" propaganda for their IPO, and then there are AI labs headed by actual scientists that do actual science for humanity without constantly trying to put themselves into the spotlight.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#83Can this be used with a 23andMe genome to find pathogenic mutations?
23andMe tests SNP's (single nucleotides) that are inferred to be significant in protein function/epigenitics.
Those SNP's i believe are testd from primers
so what 23andMe does is specifically on the back of previous research and afaik their data isnt technically clinically significant as most findings need confirmation or more tests.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#84People are upvoting this because it has the “Alpha______” prefix. Meanwhile, everyone in the field of genomics knows that AlphaGenome provides essentially zero improvements over the previous SOTA, Borzoi…
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#85I saw a really interesting talk by Katie Pollard at ISMB this year about the limitations of variant prediction. The gist was, can existing variation provide enough context to infer impact of variation? The answer seemed to be no. Kind of like how frontier LLMs need to ingest larger and large amounts of text to advance. We are going to need to leverage comparative data from other species, and likely tremendous amounts…
That's an interesting statement: "The gist was, can existing variation provide enough context to infer impact of variation? The answer seemed to be no."
Is this saying that if we were to sequence every human being on the planet, we'd still be unable to explain some phenotype differences caused by variation simply becase there aren't enough humans/enough variation? Interesting, as that's the first time I've heard that claim, and it would suggest that we spend our time working on mechanistic models of variant to phenotype.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#86This has Demis written all over it. There is a great video of him with AlphaFold chatting with the team about releasing some results, and he asked something like “what if we just do them all?” Very excited to see that happen here.
I don’t think Demis played a big role in this. It was mainly Ziga Avsec who developed Enformer (the first actually decent sequence-to-function model), and then AlphaGenome.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#87There are AI labs headed by marketing CEOs that fake metrics, have an utter disregard for humanity and make up "AGI is imminent" propaganda for their IPO, and then there are AI labs headed by actual scientists that do actual science for humanity without constantly trying to put themselves into the spotlight.
Interestingly the labs led by marketing CEOs have much better models (astra is A LOT better than gemini).
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#88People are upvoting this because it has the “Alpha______” prefix. Meanwhile, everyone in the field of genomics knows that AlphaGenome provides essentially zero improvements over the previous SOTA, Borzoi…
> a database that predicts the effects of every possible single nucleotide variant in the human genome. We used the AlphaGenome AI model to pre-calculate the regulatory impact of all 9 billion single-letter genetic changes, resulting in a massive, 1-petabyte dataset.
This is for a database, no? While Borzoi is a model?
> Here, we introduce Borzoi, a model that learns to predict cell-type-specific and tissue-specific RNA-seq coverage from DNA sequence.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#89Earlier quoted context omitted.
DeepMind objectively is doing that. The world is not so black and white as "evil profit-hungry corporations will never do anything good".
If Google does anything good for the world it is entirely accidental, and I am certain they will correct this mistake later.
I think they have done some quantifiable good.
Alphafold or Earthquake alerts for example spring to mind.
You could argue about comprehensive "free" services (search, Gmail, YouTube, docs, etc) and "free" browsers and "free" operating systems (yeah plural) being net positives in the world but I know that many people view these as negatives as they (rightly or wrongly) view them as vehicles to sell ads or collect data, but I bet you 100 bucks the typical person on the street using their android phone to search Google, watch YouTube, check their Gmail, write a doc, view photos etc doesn't give a shit about that and values these things - google has ended up as a monopoly as these things are actually pretty useful to people and thus valued, even if we in the tech world disagree with the adtech and data aspects. This monopoly was not a fait acompli or pure market abuse - Nokia, MS, flikr, Hotmail, yahoo etc were all incumbent and market dominant but are now irrelevant because the Google products were viewed as better by end users.
Re: AlphaGenome Atlas: a high-resolution map of human DNA
#90Earlier quoted context omitted.
Be careful when loving government/philanthropy/ngo-driven endeavors; they're a single executive decision away from breaking your heart.
Marriages too
Hopefully you have a bit more impact on the decision making of your marriage shareholders than on public company executives.