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Everything about DisGeNET

Genetic data platform

DISGENET is an AI-ready translational knowledge infrastructure that integrates comprehensive information on human genotype–phenotype relationships, including gene–disease, variant–disease, and disease–disease associations. Developed since 2010 and commercialised by MedBioInformatics Solutions, a Barcelona-based techbio company, the platform is widely used in biomedical research, drug discovery, and clinical genomics. Wikipedia →

🧭 Start here: a 6-step reading path

  1. Read the overview: DisGeNETA 5-minute orientation
  2. Skim a recent paper: Expression of Concern: DisGeNet: a disease-centric interaction database among diseases and various associated genesInfluential work since 2022
  3. Read the landmark paper: DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variantsCited 2,425 times
  4. Go sideways: Gene–disease databaseA closely related topic
  5. Go sideways: Ken Chen (computational biologist)A closely related topic

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🏆 Landmark papers (most cited)

🆕 Influential since 2022

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