{"paper":{"title":"Enabling Down Syndrome Research through a Knowledge Graph-Driven Analytical Framework","license":"http://creativecommons.org/licenses/by/4.0/","headline":"","cross_cats":["cs.AI","cs.DB","cs.LG"],"primary_cat":"q-bio.QM","authors_text":"Jack DiGiovanna, Jamed Ferreris Vargas, Madan Krishnamurthy, Melissa A Haendel, Patricia L. Whetzel, Pierrette Lo, Surya Saha, Tursynay Issabekova","submitted_at":"2025-09-01T15:50:38Z","abstract_excerpt":"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-dr"},"claims":{"count":0,"items":[],"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"source":{"id":"2509.01565","kind":"arxiv","version":1},"verdict":{"id":null,"model_set":{},"created_at":null,"strongest_claim":"","one_line_summary":"","pipeline_version":null,"weakest_assumption":"","pith_extraction_headline":""},"integrity":{"clean":true,"summary":{"advisory":0,"critical":0,"by_detector":{},"informational":0},"endpoint":"/pith/2509.01565/integrity.json","findings":[],"available":true,"detectors_run":[],"snapshot_sha256":"c28c3603d3b5d939e8dc4c7e95fa8dfce3d595e45f758748cecf8e644a296938"},"references":{"count":0,"sample":[],"resolved_work":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57","internal_anchors":0},"formal_canon":{"evidence_count":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"author_claims":{"count":0,"strong_count":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"builder_version":"pith-number-builder-2026-05-17-v1"}