The DisGeNET knowledge platform for disease genomics: 2019 update

The DisGeNET knowledge platform for disease genomics: 2019 update

2019 | Janet Piñero, Juan Manuel Ramírez-Anguita, Josep Saüch-Pitarch, Francesco Ronzano, Emilio Centeno, Ferran Sanz and Laura I. Furlong
The DisGeNET knowledge platform is a comprehensive resource for disease genomics, integrating and standardizing data on disease-associated genes and variants from multiple sources, including scientific literature. The platform covers a wide range of human diseases, normal and abnormal traits, and provides tools for accessing its data. The latest release (v6.0) includes over 628,685 gene-disease associations (GDAs) and 210,498 variant-disease associations (VDAs), involving more than 24,000 diseases and 117,000 genomic variants. DisGeNET incorporates new data sources, attributes, and prioritization metrics, along with a redesigned web interface and APIs. The platform uses data standardization, expert-curated information, and tools for accessing publicly available data to support genomic medicine and drug R&D. DisGeNET provides a classification of data sources, including curated, animal models, literature, and inferred for GDAs, and curated and literature for VDAs. The platform also includes disease-disease associations (DDAs) to explore similarities between diseases based on shared genes and variants. DisGeNET offers various tools, including a web interface, REST API, RDF dataset, and Cytoscape App, for data exploration and analysis. The platform supports the analysis of genomic data from studies on complex diseases and traits, such as those identified in genome-wide association studies (GWAS). DisGeNET provides detailed information on disease associations, including evidence levels, DisGeNET scores, and Evidence Indexes. The platform is available under an open license and is used by the biomedical community for various applications in drug R&D, disease genomics, and bioinformatics. DisGeNET is an interoperable resource that facilitates the integration and querying of data with other databases, supporting the principles of FAIR data management. The platform is continuously updated with new data and features to enhance its utility in the field of genomics and biomedical research.The DisGeNET knowledge platform is a comprehensive resource for disease genomics, integrating and standardizing data on disease-associated genes and variants from multiple sources, including scientific literature. The platform covers a wide range of human diseases, normal and abnormal traits, and provides tools for accessing its data. The latest release (v6.0) includes over 628,685 gene-disease associations (GDAs) and 210,498 variant-disease associations (VDAs), involving more than 24,000 diseases and 117,000 genomic variants. DisGeNET incorporates new data sources, attributes, and prioritization metrics, along with a redesigned web interface and APIs. The platform uses data standardization, expert-curated information, and tools for accessing publicly available data to support genomic medicine and drug R&D. DisGeNET provides a classification of data sources, including curated, animal models, literature, and inferred for GDAs, and curated and literature for VDAs. The platform also includes disease-disease associations (DDAs) to explore similarities between diseases based on shared genes and variants. DisGeNET offers various tools, including a web interface, REST API, RDF dataset, and Cytoscape App, for data exploration and analysis. The platform supports the analysis of genomic data from studies on complex diseases and traits, such as those identified in genome-wide association studies (GWAS). DisGeNET provides detailed information on disease associations, including evidence levels, DisGeNET scores, and Evidence Indexes. The platform is available under an open license and is used by the biomedical community for various applications in drug R&D, disease genomics, and bioinformatics. DisGeNET is an interoperable resource that facilitates the integration and querying of data with other databases, supporting the principles of FAIR data management. The platform is continuously updated with new data and features to enhance its utility in the field of genomics and biomedical research.
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