[The secrets of variants]
1Biologiste, généticien et immunologiste, Président d'Aprogène (Association pour la promotion de la Génomique), 13007 Marseille, France.
Abstract:
Most sequence variants encountered in medical genetics are of unknown significance, and their interpretation is a major stumbling block. Building on the successful AlphaFold system, the DeepMind group at Google has built a tool that predicts the pathogenic potential of any substitution in the human proteome. This is a major achievement and will be an important asset in clinical genetics.
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