GitHub repository: CapraLab/cosmis
Primary language: Python
Description: COSMIS is a new framework for quantification of the constraint on protein-coding genetic variation in 3D spatial neighborhoods. It leverages recent advances in computational structure prediction, large-scale sequencing data from gnomAD, and a mutation-spectrum-aware statistical model. The framework currently maps the landscape of 3D spatial constraint on 6.1 amino acid sites covering >80% (16,533) of human proteins. As genetic variation database and protein structure databases grow, we will continuously update COSMIS.