An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD).
PMID:33183351
DISNET: a framework for extracting phenotypic disease information from public sources.
PMID:32110491
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
PMID:29214177
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.
PMID:27899610
Computer-assisted initial diagnosis of rare diseases.
PMID:27547534
LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems.
PMID:26958175
An automated real-time integration and interoperability framework for bioinformatics.
PMID:26464306
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.
PMID:25877637
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
PMID:25029978