ing. B. Charbon

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E-mail:
b.charbon umcg.nl

Research

Publications
  1. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In : Genome medicine. 12, 1, p. 75 11 p., 75.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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

  3. 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

  4. 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

  5. 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

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