Chroniques génomiques - Les secrets des variants
Résumé
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.
Pour citer ce document
Jordan, Bertrand ; Les secrets des variants : Chroniques génomiques, Med Sci (Paris), Vol. 39, N° 12 ; p. 981-983 ; DOI : 10.1051/medsci/2023180