Demis Hassabis Profile picture
Co-founder & CEO Google DeepMind - working on AGI. Trying to understand the fundamental nature of reality. Also revolutionising drug discovery @IsomorphicLabs
Richard Jones Profile picture 2 subscribed
Sep 19, 2023 5 tweets 1 min read
Excited to share #AlphaMissense our new AI system that can classify whether genetic mutations (missense variants) are benign or harmful - a critical step toward uncovering causes of many diseases, from cystic fibrosis to cancer. In @ScienceMagazine today dpmd.ai/AlphaMissenseDH Just as swapping a single letter can alter an entire word, in the language of DNA, swapping a single amino acid can alter an entire protein. These swaps are called missense variants. An average person has over 9,000 missense variants - most benign, but even one can cause disease