2020, Vol. 48, Database issue | Janet Piñero, Juan Manuel Ramírez-Anguita, Josep Sauch-Pitarch, Francesco Ronzano, Emilio Centeno, Ferran Sanz and Laura I. Furlong
The DisGeNET knowledge platform is a comprehensive resource for disease genomics, designed to integrate and standardize 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, with over 24,000 diseases and traits, 17,000 genes, and 117,000 genomic variants. Key features of DisGeNET include a new web interface, APIs, and a suite of tools for data access and analysis. The platform supports various applications in genomic medicine and drug R&D by providing standardized data, expert-curated information, and automated text mining of scientific literature. DisGeNET also includes novel data attributes and prioritization metrics to facilitate the interpretation and analysis of variant associations. An example of its utility is demonstrated through the analysis of rare diseases, such as Duchenne Muscular Dystrophy, and the interpretation of genomic data from complex diseases like Type 2 Diabetes Mellitus.The DisGeNET knowledge platform is a comprehensive resource for disease genomics, designed to integrate and standardize 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, with over 24,000 diseases and traits, 17,000 genes, and 117,000 genomic variants. Key features of DisGeNET include a new web interface, APIs, and a suite of tools for data access and analysis. The platform supports various applications in genomic medicine and drug R&D by providing standardized data, expert-curated information, and automated text mining of scientific literature. DisGeNET also includes novel data attributes and prioritization metrics to facilitate the interpretation and analysis of variant associations. An example of its utility is demonstrated through the analysis of rare diseases, such as Duchenne Muscular Dystrophy, and the interpretation of genomic data from complex diseases like Type 2 Diabetes Mellitus.