Accessing AlphaMissense Data Resources in R
The AlphaMissense publication https://www.science.org/doi/epdf/10.1126/science.adg7492 outlines how a variant of AlphaFold / DeepMind was used to predict missense variant pathogenicity. Supporting data on Zenodo https://zenodo.org/record/10813168 include, for instance, 71M variants across hg19 and hg38 genome builds. The 'AlphaMissenseR' package allows ready access to the data, downloading individual files to DuckDB databases for exploration and integration into R and Bioconductor workflows.
