Nejvíce citovaný článek - 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
- databáze proteinů * MeSH
- genetická variace MeSH
- genetické testování metody MeSH
- genomika * metody MeSH
- konformace proteinů MeSH
- lidé MeSH
- proteiny genetika chemie MeSH
- proteom genetika MeSH
- sekvence aminokyselin MeSH
- software MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- proteiny MeSH
- proteom MeSH