ing. B. Charbon

E-mail:
b.charbon umcg.nl

Research

Publications
  1. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

    van der Velde, K. J., Imhann, F., Charbon, B., Pang, C., van Enckevort, D., Slofstra, M., Barbieri, R., Alberts, R., Hendriksen, D., Kelpin, F., de Haan, M., de Boer, T., Haakma, S., Stroomberg, C., Scholtens, S., van de Geijn, G-J., Festen, E. A. M., Weersma, R. K. & Swertz, M. A., 15-Mar-2019, In : Bioinformatics (Oxford, England). 35, 6, p. 1076-1078 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. BiobankUniverse: Automatic matchmaking between datasets for biobank data discovery and integration

    Pang, C., Kelpin, F., van Enckevort, D., Eklund, N., Silander, K., Hendriksen, D., de Haan, M., Jetten, J., de Boer, T., Charbon, B., Holub, P., Hillege, H. & Swertz, M. A., 15-Nov-2017, In : Bioinformatics. 33, 22, p. 3627-3634 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

    Pang, C., van Enckevort, D., de Haan, M., Kelpin, F., Jetten, J., Hendriksen, D., de Boer, T., Charbon, B., Winder, E., Velde, van der, K. J., Doiron, D., Fortier, I., Hillege, H. & Swertz, M. A., 15-Jul-2016, In : Bioinformatics. 32, 14, p. 2176-2183 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

    Pang, C., Sollie, A., Sijtsma, A., Hendriksen, D., Charbon, B., Haan, M. D., de Boer, T., Kelpin, F., Jetten, J., van der Velde, J. K., Smidt, N., Sijmons, R., Hillege, H. & Swertz, M. A., 18-Sep-2015, In : Database-The journal of biological databases and curation. 2015, 13 p., bav089.

    Research output: Contribution to journalArticleAcademicpeer-review

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