DISGENET: Piecing Together the Puzzle of Human Disease

Despite the rapid growth of genomic data, most of it remains trapped in unstructured text, limiting its usefulness for drug discovery and precision medicine. Although genomic data is increasingly available through databases, they are often isolated and not linked to one another. 

We pioneered an approach to extract genotype-phenotype information from databases and combine it with high-quality data extracted from the scientific literature using our state-of-the-art Natural Language Processing tool.

This information is integrated into our solution DISGENET, a single resource containing all the information on genes and genomic variants associated with every human disease.

The data is enriched with metrics and annotations to empower users in identifying actionable insights.

Learn how DISGENET expedites drug R&D and addresses key bottlenecks in clinical genomics. DISGENET empowers researchers and industry professionals to leverage genomic and biomedical data, making it an indispensable tool for advancing drug research and precision medicine.