Increased discoverability of rare disease datasets through knowledge graph integration.
Demonstrate a methodology for improving discoverability of rare disease datasets by enriching source data with biological associations.
Author(s): Braun, Ian, Hartley, Emily, Olson, Daniel, Matentzoglu, Nicolas, Schaper, Kevin, Walls, Ramona, Vasilevsky, Nicole
DOI: 10.1093/jamiaopen/ooaf001