bioRxivBioinformatics
DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases
Nuria Queralt Rosinach, Janet Pinero, Alex Bravo Serrano, Ferran Sanz, Laura I Furlong
Abstract
MotivationDisGeNET-RDF makes available knowledge on the genetic basis of human diseases in the Semantic Web (SW). Gene-disease associations (GDAs) and their provenance metadata are published as human-readable and machine-processable web resources. The information on GDAs included in DisGeNET-RDF is interlinked to other biomedical databases to support the development of bioinformatics approaches for translational research through evidence-based exploitation of a rich and fully interconnected Linked Open Data (LOD).\n\nAvailabilityhttp://rdf.disgenet.org/\n\nContactsupport@disgenet.org
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- DISEASES 2.0: a weekly updated database of disease-gene associations from text mining and data integration
Dhouha Grissa, Alexander Junge, … Lars Juhl Jensen·DatabasePeer-reviewed·Jan 1, 2022
- History of rare diseases and their genetic causes - a data driven approach
Friederike Ehrhart, Egon Willighagen, … Chris T. Evelo·Scientific DataPeer-reviewed·May 4, 2021
- DISEASES: Text mining and data integration of disease–gene associations
Sune Pletscher-Frankild, Albert Pallejà, … Lars Juhl Jensen·MethodsPeer-reviewed·Mar 1, 2015
- GeDex: A consensus Gene-disease Event Extraction System based on frequency patterns and supervised learning
Larisa M. Soto, Roberto Olayo-Alarcón, … Julio Collado‐Vides·bioRxiv·Nov 20, 2019
- Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes
Mona Alshahrani, Robert Hoehndorf·BioinformaticsPeer-reviewed·Jul 5, 2018
- Exploring Disease Model Mouse Using Knowledge Graphs: Combining Gene Expression, Orthology, and Disease Datasets
Tatsuya Kushida, Tarcisio Mendes de Farias, … Hiroshi Masuya·bioRxiv·Aug 30, 2023