Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
2018 · Nucleic Acids Research · 733 citations
https://doi.org/10.1093/nar/gky1105
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Julius O.B. Jacobsen
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Julius O.B. Jacobsen is an academic researcher from University of Copenhagen. The author has contributed to research in topics: Genomics and Rare Diseases & Biomedical Text Mining and Ontologies & Bioinformatics and Genomic Networks. The author has an h-index of 31, co-authored 65 publications.
ORCID: 0000-0002-3265-1591Papers by this author
worksThe Human Phenotype Ontology in 2024: phenotypes around the world
2023 · Nucleic Acids Research · 337 citations
https://doi.org/10.1093/nar/gkad1005
GA4GH: International policies and standards for data sharing across genomic research and healthcare
2021 · Cell Genomics · 280 citations
https://doi.org/10.1016/j.xgen.2021.100029
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
2019 · Nucleic Acids Research · 259 citations
https://doi.org/10.1093/nar/gkz997
The GA4GH Phenopacket schema defines a computable representation of clinical data
2022 · Nature Biotechnology · 108 citations
https://doi.org/10.1038/s41587-022-01357-4
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species
2023 · Nucleic Acids Research · 88 citations
https://doi.org/10.1093/nar/gkad1082
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