mhaendel

rare disease ontology ontologies open science deep phenotyping data standards data integration semantic web open data semantic phenotyping data sharing phenotype semantics attribution model organism variant prioritization data science undiagnosed disease biocuration identifiers legal interoperability human phenotype ontology semantic integration disease diagnostics cancer patient-centered phenopackets genotype-2-phenotype clinical genetics cross-species phenotyping precision medicine scholarly communication data discovery contribution credit research profiling research reproducibility amia rdf creative commons biomedical informatics pids ncats lifespan informatics team science translational science genotype-phenotype interoperability opendata biomedical reusable data fanconi anemia monarch initiative science policy genomic medicine variant priorization fair data licensing g2p research evaluation scholarship bd2k #ontologies #rare disease research impact genotype reproducibility phenotyping data set description w3c semantic authorship vivo-isf hpo semantic similarity research resources materials and methods morphology anatomy biodiversity