January 01, 2024 article Open access An interconnected data infrastructure to support large-scale rare disease research GigaScience DOI: 10.1093/gigascience/giae058 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 9 References 3 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access The GA4GH Phenopacket schema defines a computable representation of clinical data 2022 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access cited by 2 patents 117 citations The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 60 citations FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research 2022 Scientific Data data-paper Computer Science Research Data Management Practices Open access 32 citations 3 results