DeepMind provides researchers with an atlas of possible changes to a letter in human DNA, along with a score to prioritize variants.
Announced on September 8, AlphaGenome Atlas gathers predictions of the molecular effects of nine billion possible nucleotide substitutions in the human genome. The resource is available free of charge for academic research via a portal and accessible by other tools.
DeepMind also presents the AVI score, which brings together the inputs of AlphaGenome and AlphaMissense to prioritise the variants to be examined. Collaborators have used theatlas in rare disease research, with experimental validation of some results. It provides predictions to explore, not experimental evidence for each mutation.
Read the full article on the original source
Go to the source →