4 papers
LinkML: An Open Data Modeling Framework
Sierra A. T. Moxon, Harold Solbrig, Nomi L. Harris +33
Scientific research relies on well-structured, standardized data; however, much of it is stored in formats such as free-text lab notebooks, non-standardized spreadsheets, or data r…
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…
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,…
A Dynamic Framework for Semantic Grouping of Common Data Elements (CDE) Using Embeddings and Clustering
Madan Krishnamurthy, Daniel Korn, Melissa A Haendel +2
This research aims to develop a dynamic and scalable framework to facilitate harmonization of Common Data Elements (CDEs) across heterogeneous biomedical datasets by addressing cha…