Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures#

Authors#

Seulki Kwon, Jordan Safer, Duyen T. Nguyen, David Hoksza, Patrick May, Jeremy A. Arbesfeld, Alan F. Rubin, Arthur J. Campbell, Alex Burgin, Sumaiya Iqbal

Abstract#

Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics have generated genetic variants at an unprecedented scale. However, efficient tools and resources are needed to link disparate data types—to ‘map’ variants onto protein structures, to better understand how the variation causes disease, and thereby design therapeutics. Here we present the Genomics 2 Proteins portal (https://g2p.broadinstitute.org/): a human proteome-wide resource that maps 20,076,998 genetic variants onto 42,413 protein sequences and 77,923 structures, with a comprehensive set of structural and functional features. Additionally, the Genomics 2 Proteins portal allows users to interactively upload protein residue-wise annotations (for example, variants and scores) as well as the protein structure beyond databases to establish the connection between genomics to proteins. The portal serves as an easy-to-use discovery tool for researchers and scientists to hypothesize the structure–function relationship between natural or synthetic variations and their molecular phenotypes.