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Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures
S. Kwon, J. Safer, DT. Nguyen, D. Hoksza, P. May, JA. Arbesfeld, AF. Rubin, AJ. Campbell, A. Burgin, S. Iqbal
Language English Country United States
Document type Journal Article
Grant support
RM1 HG010461
NHGRI NIH HHS - United States
UM1 HG011969
NHGRI NIH HHS - United States
UM1HG011969
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)
RM1HG010461
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)
NLK
ProQuest Central
from 2004-10-01 to 1 year ago
Health & Medicine (ProQuest)
from 2004-10-01 to 1 year ago
- 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
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.
Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA
Cancer Data Sciences Dana Farber Harvard Cancer Center Boston MA USA
Center for the Development of Therapeutics Broad Institute of MIT and Harvard Cambridge MA USA
Department of Medical Biology University of Melbourne Parkville Victoria Australia
Luxembourg Centre for Systems Biomedicine University of Luxembourg Esch sur Alzette Luxembourg
PATTERN Broad Institute of MIT and Harvard Cambridge MA USA
Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA
References provided by Crossref.org
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