Google DeepMind's AI successor predicts how 71M mutations cause disease
endpts.com
endpts.com
% 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.
Also kind of curious which percentage of the pathogenic mutated genes are recessive vs dominant.
Fun indeed!
% 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...
I did have the SIRT1 mutation associated with a long life so there's that.
Non-paywall wired article: https://www.wired.co.uk/article/deepmind-ai-alphamissense-ge...
These are crazy times.