Found: 12

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  • FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

    Published in:
    Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01265-x
    By:
    • van der Velde, K. Joeri;
    • Singh, Gurnoor;
    • Kaliyaperumal, Rajaram;
    • Liao, XiaoFeng;
    • de Ridder, Sander;
    • Rebers, Susanne;
    • Kerstens, Hindrik H. D.;
    • de Andrade, Fernanda;
    • van Reeuwijk, Jeroen;
    • De Gruyter, Fini E.;
    • Hiltemann, Saskia;
    • Ligtvoet, Maarten;
    • Weiss, Marjan M.;
    • van Deutekom, Hanneke W. M.;
    • Jansen, Anne M. L.;
    • Stubbs, Andrew P.;
    • Vissers, Lisenka E. L. M.;
    • Laros, Jeroen F. J.;
    • van Enckevort, Esther;
    • Stemkens, Daphne
    Publication type:
    Article

  • A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.

    Published in:
    Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-020-00794-7
    By:
    • Ehrhart, Friederike;
    • Jacobsen, Annika;
    • Rigau, Maria;
    • Bosio, Mattia;
    • Kaliyaperumal, Rajaram;
    • Laros, Jeroen F. J.;
    • Willighagen, Egon L.;
    • Valencia, Alfonso;
    • Roos, Marco;
    • Capella-Gutierrez, Salvador;
    • Curfs, Leopold M. G.;
    • Evelo, Chris T.
    Publication type:
    Article

  • The GA4GH Phenopacket schema defines a computable representation of clinical data.

    Published in:
    2022
    By:
    • Jacobsen, Julius O. B.;
    • Baudis, Michael;
    • Baynam, Gareth S.;
    • Beckmann, Jacques S.;
    • Beltran, Sergi;
    • Buske, Orion J.;
    • Callahan, Tiffany J.;
    • Chute, Christopher G.;
    • Courtot, Mélanie;
    • Danis, Daniel;
    • Elemento, Olivier;
    • Essenwanger, Andrea;
    • Freimuth, Robert R.;
    • Gargano, Michael A.;
    • Groza, Tudor;
    • Hamosh, Ada;
    • Harris, Nomi L.;
    • Kaliyaperumal, Rajaram;
    • Lloyd, Kevin C. Kent;
    • Khalifa, Aly
    Publication type:
    Letter

  • Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.

    Published in:
    Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00263-7
    By:
    • Queralt-Rosinach, Núria;
    • Kaliyaperumal, Rajaram;
    • Bernabé, César H.;
    • Long, Qinqin;
    • Joosten, Simone A.;
    • van der Wijk, Henk Jan;
    • Flikkenschild, Erik L.A.;
    • Burger, Kees;
    • Jacobsen, Annika;
    • Mons, Barend;
    • Roos, Marco
    Publication type:
    Article

  • Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.

    Published in:
    Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00264-6
    By:
    • Kaliyaperumal, Rajaram;
    • Wilkinson, Mark D.;
    • Moreno, Pablo Alarcón;
    • Benis, Nirupama;
    • Cornet, Ronald;
    • dos Santos Vieira, Bruna;
    • Dumontier, Michel;
    • Bernabé, César Henrique;
    • Jacobsen, Annika;
    • Le Cornec, Clémence M. A.;
    • Godoy, Mario Prieto;
    • Queralt-Rosinach, Núria;
    • Schultze Kool, Leo J.;
    • Swertz, Morris A.;
    • van Damme, Philip;
    • van der Velde, K. Joeri;
    • Lalout, Nawel;
    • Zhang, Shuxin;
    • Roos, Marco
    Publication type:
    Article

  • From Peer-Reviewed to Peer-Reproduced in Scholarly Publishing: The Complementary Roles of Data Models and Workflows in Bioinformatics.

    Published in:
    PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0127612
    By:
    • González-Beltrán, Alejandra;
    • Li, Peter;
    • Zhao, Jun;
    • Avila-Garcia, Maria Susana;
    • Roos, Marco;
    • Thompson, Mark;
    • van der Horst, Eelke;
    • Kaliyaperumal, Rajaram;
    • Luo, Ruibang;
    • Lee, Tin-Lap;
    • Lam, Tak-wah;
    • Edmunds, Scott C.;
    • Sansone, Susanna-Assunta;
    • Rocca-Serra, Philippe
    Publication type:
    Article

  • Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

    Published in:
    BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8327980
    By:
    • Sernadela, Pedro;
    • González-Castro, Lorena;
    • Carta, Claudio;
    • van der Horst, Eelke;
    • Lopes, Pedro;
    • Kaliyaperumal, Rajaram;
    • Thompson, Mark;
    • Thompson, Rachel;
    • Queralt-Rosinach, Núria;
    • Lopez, Estrella;
    • Wood, Libby;
    • Robertson, Agata;
    • Lamanna, Claudia;
    • Gilling, Mette;
    • Orth, Michael;
    • Merino-Martinez, Roxana;
    • Posada, Manuel;
    • Taruscio, Domenica;
    • Lochmüller, Hanns;
    • Robinson, Peter
    Publication type:
    Article

  • The de novo FAIRification process of a registry for vascular anomalies.

    Published in:
    2021
    By:
    • Groenen, Karlijn H. J.;
    • Jacobsen, Annika;
    • Kersloot, Martijn G.;
    • dos Santos Vieira, Bruna;
    • van Enckevort, Esther;
    • Kaliyaperumal, Rajaram;
    • Arts, Derk L.;
    • 't Hoen, Peter A. C.;
    • Cornet, Ronald;
    • Roos, Marco;
    • Kool, Leo Schultze
    Publication type:
    journal article

  • The Implicitome: A Resource for Rationalizing Gene-Disease Associations.

    Published in:
    PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149621
    By:
    • Hettne, Kristina M.;
    • Thompson, Mark;
    • van Haagen, Herman H. H. B. M.;
    • van der Horst, Eelke;
    • Kaliyaperumal, Rajaram;
    • Mina, Eleni;
    • Tatum, Zuotian;
    • Laros, Jeroen F. J.;
    • van Mulligen, Erik M.;
    • Schuemie, Martijn;
    • Aten, Emmelien;
    • Li, Tong Shu;
    • Bruskiewich, Richard;
    • Good, Benjamin M.;
    • Su, Andrew I.;
    • Kors, Jan A.;
    • den Dunnen, Johan;
    • van Ommen, Gert-Jan B.;
    • Roos, Marco;
    • ‘t Hoen, Peter A.C.
    Publication type:
    Article

  • Applying federated learning to combat food fraud in food supply chains.

    Published in:
    NPJ Science of Food, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41538-023-00220-3
    By:
    • Gavai, Anand;
    • Bouzembrak, Yamine;
    • Mu, Wenjuan;
    • Martin, Frank;
    • Kaliyaperumal, Rajaram;
    • van Soest, Johan;
    • Choudhury, Ananya;
    • Heringa, Jaap;
    • Dekker, Andre;
    • Marvin, Hans J. P.
    Publication type:
    Article

  • Author Correction: Applying federated learning to combat food fraud in food supply chains.

    Published in:
    2023
    By:
    • Gavai, Anand;
    • Bouzembrak, Yamine;
    • Mu, Wenjuan;
    • Martin, Frank;
    • Kaliyaperumal, Rajaram;
    • van Soest, Johan;
    • Choudhury, Ananya;
    • Heringa, Jaap;
    • Dekker, Andre;
    • Marvin, Hans J. P.
    Publication type:
    Correction Notice

  • Applying federated learning to combat food fraud in food supply chains.

    Published in:
    NPJ Science of Food, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41538-023-00220-3
    By:
    • Gavai, Anand;
    • Bouzembrak, Yamine;
    • Mu, Wenjuan;
    • Martin, Frank;
    • Kaliyaperumal, Rajaram;
    • van Soest, Johan;
    • Choudhury, Ananya;
    • Heringa, Jaap;
    • Dekker, Andre;
    • Marvin, Hans J. P.
    Publication type:
    Article