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

Kwon, S; Safer, J; Nguyen, DT; Hoksza, D; May, P; Arbesfeld, JA; Rubin, AF; Campbell, AJ; Burgin, A; Iqbal, S

Author(s): Kwon, S; Safer, J; Nguyen, DT; Hoksza, D; May, P; Arbesfeld, JA; Rubin, AF; Campbell, AJ; Burgin, A; Iqbal, S;
Details: Publication Year 2024-09-18,Volume 21,Issue #10,Page 1947-1957
Journal Title: Nature Methods
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.
Publisher: Springer Nature
Keywords: Humans; *Genomics/methods; *Databases, Protein; Proteins/genetics/chemistry; Proteome/genetics; Protein Conformation; Software; Genetic Testing/methods; Genetic Variation; Amino Acid Sequence
Research Division(s): Bioinformatics
PubMed ID: 39294369
Publisher's Version: https://doi.org/10.1038/s41592-024-02409-0
Open Access at Publisher's Site: https://doi.org/10.1038/s41592-024-02409-0
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-10-04 10:45:02

Last Modified: 2024-10-25 10:50:50