Adriana J Malheiro

ORCID: 0000-0003-3695-1628
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Research Areas
  • Biomedical Text Mining and Ontologies
  • Genomics and Rare Diseases
  • Genetics, Bioinformatics, and Biomedical Research

Abstract There are thousands of distinct disease entities and concepts, each which known by different sometimes contradictory names. The lack a unified system for managing these poses major challenge both machines humans that need to harmonize information better predict causes treatments disease. Mondo Disease Ontology is an open, community-driven ontology integrates key medical biomedical terminologies, supporting data integration improve diagnosis, treatment, translational research....

10.1101/2022.04.13.22273750 preprint EN cc-by medRxiv (Cold Spring Harbor Laboratory) 2022-04-16
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