Patricia L. Whetzel

Peter W. Rose, Benjamin M. Good, Amanda M. Saravia-Butler et al.

MCP Server Proto-OKN (mcp-proto-okn) is a Python-based Model Context Protocol server that enables AI assistants to discover, inspect, query and integrate scientific knowledge graphs through natural language. The server provides graph routing, schema inspection, SPARQL execution, ontology expansion, multi-graph querying, and transcript generation, lowering the barrier to cross-domain knowledge graph analysis for biomedical and scientific users. mcp-proto-okn is implemented in Python using the FastMCP framework and is available at https://github.com/sbl-sdsc/mcp-proto-okn. Documentation, client configuration instructions, and example analysis transcripts are provided in the GitHub repository.

Madan Krishnamurthy, Surya Saha, Pierrette Lo et al.

Trisomy 21 results in Down syndrome, a multifaceted genetic disorder with diverse clinical phenotypes, including heart defects, immune dysfunction, neurodevelopmental differences, and early-onset dementia risk. Heterogeneity and fragmented data across studies challenge comprehensive research and translational discovery. The NIH INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has assembled harmonized participant-level datasets, yet realizing their potential requires integrative analytical frameworks. We developed a knowledge graph-driven platform transforming nine INCLUDE studies, comprising 7,148 participants, 456 conditions, 501 phenotypes, and over 37,000 biospecimens, into a unified semantic infrastructure. Cross-resource enrichment with Monarch Initiative data expands coverage to 4,281 genes and 7,077 variants. The resulting knowledge graph contains over 1.6 million semantic associations, enabling AI-ready analysis with graph embeddings and path-based reasoning for hypothesis generation. Researchers can query the graph via SPARQL or natural language interfaces. This framework converts static data repositories into dynamic discovery environments, supporting cross-study pattern recognition, predictive modeling, and systematic exploration of genotype-phenotype relationships in Down syndrome.