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q-bio.QM2025
Why we need all the organisms: an exploration of the Monarch knowledge graph to aid mechanism discovery
Katherina Cortes, Daniel Korn, Sarah Gehrke +12
Research done using model organisms has been fundamental to the biological understanding of human genes, diseases and phenotypes. Model organisms provide tractable systems for expe…
q-bio.QM2025
Enabling Down Syndrome Research through a Knowledge Graph-Driven Analytical Framework
Madan Krishnamurthy, Surya Saha, Pierrette Lo +5
Trisomy 21 results in Down syndrome, a multifaceted genetic disorder with diverse clinical phenotypes, including heart defects, immune dysfunction, neurodevelopmental differences,…