Peter N. Robinson
- The Human Phenotype Ontology in 2021
2020/11/16 by Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu +48 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Biomedical Text Mining and Ontologies #Genomics and Rare Diseases
- Deep phenotyping for precision medicine
2012/04/13 by Peter N. Robinson · 7 citations
Biochemistry, Genetics and Molecular Biology · #Biomedical Text Mining and Ontologies #Gene expression and cancer classification #Genomics and Rare Diseases
- An evaluation of GPT models for phenotype concept recognition
2023/09/29 by Tudor Groza, Groza, Tudor, Harry Caufield +13 · 5 citations
Biochemistry, Genetics and Molecular Biology · Computer Science · Medicine · #Artificial Intelligence (cs.AI) #Artificial Intelligence in Healthcare and Education #Biomedical Text Mining and Ontologies #Computation and Language (cs.CL) #FOS: Computer and information sciences #Topic Modeling
- KG-Hub -- Building and Exchanging Biological Knowledge Graphs
2023/01/31 by J. Harry Caufield, Caufield, J Harry, Tim Putman +49 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Artificial Intelligence (cs.AI) #Bioinformatics and Genomic Networks #Biomedical Text Mining and Ontologies #FOS: Biological sciences #FOS: Computer and information sciences #Gene expression and cancer classification #Machine Learning (cs.LG) #Quantitative Methods (q-bio.QM)
- GRAPE for Fast and Scalable Graph Processing and random walk-based Embedding
2021/10/12 by Luca Cappelletti, Cappelletti, Luca, Tommaso Fontana +18 · 2 citations
Computer Science · Decision Sciences · #Advanced Graph Neural Networks #Data Quality and Management #Recommender Systems and Techniques
- FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology
2024/06/24 by Tudor Groza, Dylan Gration, Gareth Baynam +1 · 1 voice · 3 citations
Biochemistry, Genetics and Molecular Biology · Computer Science · #Biomedical Text Mining and Ontologies #Genomics and Rare Diseases #Machine Learning in Healthcare
- Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
2025/07/17 by Gerhard Kindle, Mickaël Alligon, Michael H. Albert +97 · 1 voice · 2 citations
Immunology and Microbiology · Medicine · #Cystic Fibrosis Research Advances #Immunodeficiency and Autoimmune Disorders #Parvovirus B19 Infection Studies
- Efficient reinterpretation of rare disease cases using Exomiser
2024/12/18 by Letizia Vestito, Julius O.B. Jacobsen, Susan Walker +6 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Biomedical Text Mining and Ontologies #Genomics and Phylogenetic Studies #Genomics and Rare Diseases