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Thats really cool: Google DeepMind just released a predictive map of every possible single-letter DNA change in the human genome. The AlphaGenome Atlas contains predictions for roughly 9 billion variants, creating a one-petabyte map of how mutations could affect gene expression, RNA splicing, protein production and other molecular processes....

58,992 просмотров • 6 дней назад •via X (Twitter)

Комментарии: 21

Фото профиля 𝕱𝖚𝖑𝖑 𝕶𝖊𝖑𝖑𝖞
𝕱𝖚𝖑𝖑 𝕶𝖊𝖑𝖑𝖞6 дней назад

At this rate I wouldn't be surprised if AlphaFold cures cancer before Gemini gets good

Фото профиля Everlier
Everlier6 дней назад

It helps to know that I'd turn out llargely the same with 99.9% probability :)

Фото профиля Shri ⋆⭒˚.⋆
Shri ⋆⭒˚.⋆6 дней назад

predicting variant impact across nine billion locations moves functional genomics from slow wet lab trial and error to pure computational screening

Фото профиля Marvin
Marvin6 дней назад

a petabyte atlas of single-letter edits. my agents still choke on a 50-page PDF

Фото профиля Fireply.ai
Fireply.ai6 дней назад

finally something in this space that isn't a chatbot wrapper pretending to do science

Фото профиля mukay
mukay6 дней назад

AlphaFold told you what the protein looks like. AlphaGenome Atlas tells you whether the gene gets expressed at all — that's the layer where most of the interesting biology actually happens.

Фото профиля George Hanu | Coding with AI
George Hanu | Coding with AI6 дней назад

Nine billion predictions is hard to picture. I’d love to see a researcher use this to narrow down what they actually test next.

Фото профиля AI Mastery Guide
AI Mastery Guide6 дней назад

One petabyte map, wild

Фото профиля Maximus
Maximus6 дней назад

the one-petabyte scale means nobody's casually downloading this, so most researchers will just query snippets instead of exploring locally

Фото профиля Gill
Gill6 дней назад

Mapping the non coding parts is genuinely massive for rare diseases.

Фото профиля Alisa Petrova
Alisa Petrova6 дней назад

Okay but 9 billion variants is the kind of number that makes my brain sparkle. 🧬

Фото профиля Rubens Soto | AI & SaaS
Rubens Soto | AI & SaaS6 дней назад

This is really awesome. Unfortunately, the advancements in healthcare are going to take longer because a bunch of tests are necessary. But that is the topic I’m more excited about in AI: cure of diseases, new treatments, cheaper healthcare.

Фото профиля MASA
MASA6 дней назад

Wonder how tissue-specific those predictions actually get

Фото профиля Sebastian Buzdugan
Sebastian Buzdugan6 дней назад

nine billion predictions matter only if calibration holds across rare cell types

Фото профиля cosmos
cosmos6 дней назад

😳😯

Фото профиля Timur Yessenov
Timur Yessenov6 дней назад

I care more about the AVI score than the petabyte: rank a mutation, see the proposed failure mechanism, then decide what deserves a wet-lab test.

Фото профиля Kirk Patrick Miller
Kirk Patrick Miller6 дней назад

Shocking! They are doing what I was begging for on February of 2025. Yay! Also… Google chose to gaslight and deceive. Man was I right about it all. Let’s get ready to dance, because all the numbers in financial markets are wrong. •

Фото профиля Pulseagi_
Pulseagi_6 дней назад

This is what google have to do!!!

Фото профиля Tony Quackprano (❖,❖)
Tony Quackprano (❖,❖)6 дней назад

It’s absolutely mad – just imagine: 9 billion possibilities, a map the size of one petabyte… Goodness, I can’t even begin to imagine that number… A real breakthrough!

Фото профиля George Papadakis
George Papadakis6 дней назад

So what if you take this, add some AGI and let it run wild?

Фото профиля Rubén
Rubén6 дней назад

We're reaching a new scale of scientific investigation capacity, what time to be alive! 🥰

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Prioritizing and interpreting disease-associated genetic variants remains one of the greatest challenges in human genetics. Today, we’re thrilled to introduce AlphaGenome Atlas 🧬, a genome-wide platform providing precomputed predictions for the regulatory effects of all ~9 billion possible single-letter changes and >100M observed indels in the human genome. Here is what Atlas delivers: 1. Variant Prioritization via AVI To prioritize variants, we developed the AlphaGenome Variant Impact (AVI) score. AVI predicts a unified score per variant, where higher values indicate greater disruption. It achieves state-of-the-art performance across diverse benchmarks. As a proof-of-concept with our collaborators at Broad Institute, AVI prioritized a deep-intronic variant in DNM1, helping solve a previously unexplained rare epileptic encephalopathy case by revealing a brain-specific cryptic splice site. 2. Multi-Layer Molecular Interpretation Variant prioritization is only half the battle; researchers also need to understand why a variant matters. Atlas decomposes variant effects across multiple interpretable layers: •Feature Attributions which decompose each variant’s score into specific biological modalities driving the impact. •Cell-Type Specificity: Precomputed predictions with AlphaGenome across hundreds of biosamples reveal the exact cellular context in which a variant acts. •Regulatory Grammar: Over 2,600 de novo DNA motifs (and >250B genome-wide instances) show when variants directly disrupt critical regulatory binding "words". Explore the resource: 🌐 Interactive browser & precomputed data: - 🎥 Video: - 📖 Blog: - 📄 Preprint:

Jun Cheng

11,434 просмотров • 6 дней назад

Demis Hassabis just described the moment medicine stops treating disease and starts deleting it from the source code. For all of human history, doctors have fought symptoms. The tumor. The organ failure. The collapse. Always downstream. Always after the damage has already started. The cause sits upstream. Written into the DNA. Ninety-eight percent of the human genome sits in non-coding regions. For decades, science understood the genes but couldn’t read the vast dark territory between them. That’s where most disease hides. Hassabis: “It takes the big, long genetic sequences and then it tries to predict, if you made a mutation to this particular single letter, single position in the genetic sequence, will that be a harmful mutation that might cause disease, or is it benign?” AlphaGenome reads your entire genetic sequence and identifies the exact letter that’s corrupted. Not a region. Not a probability range. A single position in a three-billion-letter sequence. That alone would be a generational breakthrough. But most diseases aren’t that clean. Hassabis: “What if they’re multigenic diseases where there’s cascades of mutations causing the problem? Those are even harder to detect, but actually perfect for sort of AI.” One mutation is hard enough to find. A cascade of mutations interacting across the genome is a problem no human researcher can hold in their head at once. Three billion data points. Compounding errors across all of them. The human brain cannot solve that. AI doesn’t solve it either. It maps it. All of it. At once. The most devastating diseases on Earth. The ones medicine has called untreatable for generations. They are not mysteries to the algorithm. They’re compute problems. But finding the error was only ever half the equation. You also need the ability to fix it. That tool already exists. CRISPR is a molecular scalpel. It cuts DNA at exact positions. The limitation was never the editing. It was knowing exactly where to cut. Hassabis: “A kind of combination of things like AlphaGenome and CRISPR could be incredibly powerful.” AI reads the code. CRISPR rewrites it. One finds the mutation. The other corrects it at the source. Not managing symptoms. Not slowing progression. Deleting the error from the genome. The implications go beyond treatment. A disease corrected at the genetic level doesn’t just disappear from one patient. It disappears from their bloodline. The read access is here. The write access exists. The merge is inevitable. The era of accepting a broken genetic hand is ending. We stopped being passengers in our own biology.

Dustin

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Demis Hassabis just described what might be the end of genetic disease. Google DeepMind built a system called AlphaGenome. It reads human DNA the way a software engineer reads source code. Every letter. Every position. Every mutation across 3 billion characters. Hassabis: “AlphaGenome is the best system in the world for predicting if a mutation will cause disease or if it’s benign.” 98% of your genome doesn’t code for proteins. For decades scientists treated it like dark matter. Present everywhere. Readable nowhere. AlphaGenome reads it. Now pair that with CRISPR. Jennifer Doudna’s gene editing tool can already target any DNA sequence on command. The bottleneck was never the scalpel. It was knowing exactly where to cut. Hassabis: “A combination of things like AlphaGenome and CRISPR could be incredibly powerful.” That might be the most restrained sentence ever spoken about the future of medicine. AI locates the exact mutation killing you. CRISPR goes in and deletes it. Not treatment. Not management. Deletion. The hardest cases are multigenic. Mutations that cascade and compound. Hiding behind each other. Too complex for any human mind to untangle in a single lifetime. Hassabis: “Those are even harder to detect, but actually perfect for AI to try and help with.” The diseases that have defeated medicine for centuries are the exact ones AI is purpose-built to solve. That’s not a coincidence. That’s the turning point. Every parent who sat in a white room and heard “there’s nothing more we can do.” Every patient who watched their own biology turn against them with nothing to fight back. Every name carved into stone because we could name the disease but couldn’t disarm it. That era now has an expiration date. Humanity spent 10,000 years fighting disease with observation and guesswork. We’re about to fight it with comprehension. Your grandchildren may read about genetic disease the way you read about smallpox. As something that once ended millions of lives before we learned to read the code that wrote them. Somewhere right now a child carries a death sentence folded into their DNA. Born with it before they ever opened their eyes. They don’t know it yet. Their parents don’t know it yet. But for the first time in human history, the answer might arrive before the disease does. That’s not technology. That’s the moment our biology stopped being our fate.

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18,886 просмотров • 2 месяцев назад

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sabine hazan md

25,437 просмотров • 10 месяцев назад

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180,900 просмотров • 1 год назад