8 ms·

Google DeepMind's AI successor predicts how 71M mutations cause disease

58 points by birriel 3y ago

pfd1986 3y ago
Paper: https://www.science.org/doi/10.1126/science.adg7492?adobe_mc=MCMID%3D85428697053551409250656955540689039759%7CMCORGID%3D242B6472541199F70A4C98A6%2540AdobeOrg%7CTS%3D1695121372 https://www.science.org/doi/10.1126/science.adg7492?adobe_mc... Non-paywall wired article: https://www.wired.co.uk/article/deepmind-ai-alphamissense-genetics-rare-diseases https://www.wired.co.uk/article/deepmind-ai-alphamissense-ge...
PBnFlash 3y ago
This will be 100x better before the first treatment hits human trials. Imagine how powerful these systems would be with all of the health data the world has in paper vaults. These are crazy times.
belval 3y ago
Wrote a quick script for those who have their 23andme data and are curious to see how their original dice roll went: https://github.com/Belval/AlphaMissenseCheck https://github.com/Belval/AlphaMissenseCheck % Mutated genes: 1.97% % Mutated genes that are benign: 93.98% % Mutated genes that are ambiguous: 3.94% % Mutated genes that are pathogenic: 2.08% Does not really mean anything but my tired brain thought it was fun.
- pknomad 3y ago
  My understanding is that lot of 23andme data is driven by self-reported data. I wonder how much this would change if it got vetted by a medical professional. Also kind of curious which percentage of the pathogenic mutated genes are recessive vs dominant. Fun indeed!
- kugutsumen 3y ago
  Thanks for this... % Mutated genes with at least 1 allele classified as benign: 95.72% % Mutated genes with at least 1 allele classified as ambiguous: 2.71% % Mutated genes with at least 1 allele classified as pathogenic: 1.57% % Mutated genes with 2 alleles classified as benign: 38.37% % Mutated genes with 2 alleles classified as ambiguous: 0.54% % Mutated genes with 2 alleles classified as pathogenic: 0.39% The first one I checked freaked me out a bit (I have the AA mutation): MTHFR C677T (Rs1801133). This mutation (the A allele) is associated with reduced enzyme activity, elevated total homocysteine levels and altered distribution of folate [1]. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease...
  - belval 3y ago
    Frankly once you go down that rabbit hole you have to make sure that you aren't prone to anxiety. I wrote a tool (not sure if open-sourced) that just crosses the output of 23andme with dbSNP and the number of possible diseases that came up was impressive. I did have the SIRT1 mutation associated with a long life so there's that.
7e 3y ago
Usually experts won’t make educated guesses, but: does it beat those experts?

58 points by birriel 3y ago

pfd1986 3y ago

Paper: https://www.science.org/doi/10.1126/science.adg7492?adobe_mc=MCMID%3D85428697053551409250656955540689039759%7CMCORGID%3D242B6472541199F70A4C98A6%2540AdobeOrg%7CTS%3D1695121372 https://www.science.org/doi/10.1126/science.adg7492?adobe_mc... Non-paywall wired article: https://www.wired.co.uk/article/deepmind-ai-alphamissense-genetics-rare-diseases https://www.wired.co.uk/article/deepmind-ai-alphamissense-ge...

PBnFlash 3y ago

This will be 100x better before the first treatment hits human trials. Imagine how powerful these systems would be with all of the health data the world has in paper vaults. These are crazy times.

belval 3y ago

Wrote a quick script for those who have their 23andme data and are curious to see how their original dice roll went: https://github.com/Belval/AlphaMissenseCheck https://github.com/Belval/AlphaMissenseCheck % Mutated genes: 1.97% % Mutated genes that are benign: 93.98% % Mutated genes that are ambiguous: 3.94% % Mutated genes that are pathogenic: 2.08% Does not really mean anything but my tired brain thought it was fun.

pknomad 3y ago
My understanding is that lot of 23andme data is driven by self-reported data. I wonder how much this would change if it got vetted by a medical professional. Also kind of curious which percentage of the pathogenic mutated genes are recessive vs dominant. Fun indeed!
kugutsumen 3y ago
Thanks for this... % Mutated genes with at least 1 allele classified as benign: 95.72% % Mutated genes with at least 1 allele classified as ambiguous: 2.71% % Mutated genes with at least 1 allele classified as pathogenic: 1.57% % Mutated genes with 2 alleles classified as benign: 38.37% % Mutated genes with 2 alleles classified as ambiguous: 0.54% % Mutated genes with 2 alleles classified as pathogenic: 0.39% The first one I checked freaked me out a bit (I have the AA mutation): MTHFR C677T (Rs1801133). This mutation (the A allele) is associated with reduced enzyme activity, elevated total homocysteine levels and altered distribution of folate [1]. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease...
- belval 3y ago
  Frankly once you go down that rabbit hole you have to make sure that you aren't prone to anxiety. I wrote a tool (not sure if open-sourced) that just crosses the output of 23andme with dbSNP and the number of possible diseases that came up was impressive. I did have the SIRT1 mutation associated with a long life so there's that.

7e 3y ago

Usually experts won’t make educated guesses, but: does it beat those experts?