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Crucially, the AlphaGenome predictions underlying the AVI score showed exactly how the variant functioned: it created an incorrect splice site (a mistake in the cell’s genetic instructions) that led to an abnormal extension of the resulting protein
from the top result below
https://deepmind.google/blog/alphagenome-atlas-a-predictive-map-of-every-possible-dna-letter-change-in-the-human-genome/
Crucially, the AlphaGenome predictions underlying the AVI score showed exactly how the variant functioned: it created an incorrect splice site (a mistake in the cell’s genetic instructions) that led to an abnormal extension of the resulting protein