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Search: WFRF:(Harris Nomi L.)

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1.
  • Matentzoglu, Nicolas, et al. (author)
  • A Simple Standard for Ontological Mappings 2023: Updates on data model, collaborations and tooling
  • 2023
  • In: Proceedings of the 18th International Workshop on Ontology Matching (OM 2023) co-located with the 22nd International Semantic Web Conference (ISWC 2023). ; , s. 73-78
  • Conference paper (peer-reviewed)abstract
    • The Simple Standard for Ontological Mappings (SSSOM) was first published in December 2021 (v. 0.9). After a number of revisions prompted by community feedback, we have published version 0.15.0 in July 2023. Here we report on the progress made since August 2022, in particular changes to tooling, data model and summary of ongoing standardisation efforts.
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2.
  • Rubinstein, Yaffa R., et al. (author)
  • The case for open science : rare diseases
  • 2020
  • In: JAMIA Open. - : Oxford University Press (OUP). - 2574-2531. ; 3:3, s. 472-486
  • Research review (peer-reviewed)abstract
    • The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.
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