A catalogue of genetic mutations to help pinpoint the cause of diseases
We’ve released a catalogue of ‘missense’ mutations where researchers can learn more about what effect they may have. Missense variants are genetic mutations that can affect the function of human proteins. In some cases, they can lead to diseases such as cystic fibrosis, sickle-cell anaemia, or cancer. The AlphaMissense catalogue was developed using AlphaMissense, our new AI model which classifies missense variants.
Scientists everywhere can now access Evo 2, a powerful new foundation model that understands the genetic code for all domains of life. Unveiled today as the largest publicly available AI model for genomic data, it was built on the NVIDIA DGX Cloud platform in a collaboration led by nonprofit biomedical…