Most cited article - PubMed ID 36256779
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
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.
- MeSH
- Databases, Protein * MeSH
- Genetic Variation MeSH
- Genetic Testing methods MeSH
- Genomics * methods MeSH
- Protein Conformation MeSH
- Humans MeSH
- Proteins genetics chemistry MeSH
- Proteome genetics MeSH
- Amino Acid Sequence MeSH
- Software MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Proteins MeSH
- Proteome MeSH