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

Authors: Fokkema, Ivo F. A. C., Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., Gijn, Marielle E.

Source: Human mutation. 40(12):2230-2238

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093630847.0x000001&indx=1&recIds=ETOCvdc_100093630847.0x000001

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Authors: Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N., van Berkel, Emma, Hofste, Tom G. J., van Zweeden, Martine, Derks, Ronny C., Leijsten, Nico F. A., Ruiterkamp-Versteeg, Martina H. A., Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J., de Sain-van der Velden, Monique G. M., Voorhoeve, Els, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, Nelen, Marcel

Source: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p20, 17p

MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians

Authors: van der Velde, K Joeri, Imhann, Floris, Charbon, Bart, Pang, Chao, van Enckevort, David, Slofstra, Mariska, Barbieri, Ruggero, Alberts, Rudi, Hendriksen, Dennis, Kelpin, Fleur, de Haan, Mark, de Boer, Tommy, Haakma, Sido, Stroomberg, Connor, Scholtens, Salome, van de Geijn, Gert-Jan, Festen, Eleonora A M, Weersma, Rinse K, Swertz, Morris A

Source: Bioinformatics. 35(6):1076-1078

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100078792843.0x000001&indx=1&recIds=ETOCvdc_100078792843.0x000001

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

Authors: Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.

Source: Genome medicine. 12(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171974731.0x000001&indx=1&recIds=ETOCvdc_100171974731.0x000001

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

Authors: Chao Pang^1,2, Kelpin, Fleur¹, van Enckevort, David¹, Eklund, Niina³, Silander, Kaisa³, Hendriksen, Dennis¹, de Haan, Mark¹, Jetten, Jonathan¹, de Boer, Tommy¹, Charbon, Bart¹, Holub, Petr⁴, Hillege, Hans², Swertz, Morris A.^1,2, m.a.swertz@rug.nl

Source: Bioinformatics; 11/15/2017, Vol. 33 Issue 22, p3627-3634, 8p

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

Authors: Chao Pang^1,2, van Enckevort, David¹, de Haan, Mark¹, Kelpin, Fleur¹, Jetten, Jonathan¹, Hendriksen, Dennis¹, de Boer, Tommy¹, Charbon, Bart¹, Winder, Erwin¹, van der Velde, K. Joeri¹, Doiron, Dany^3,4, Fortier, Isabel^3,4, Hillege, Hans², Swertz, Morris A.^1,2, m.a.swertz@rug.nl

Source: Bioinformatics; 7/15/2016, Vol. 32 Issue 14, p2176-2183, 8p

MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians.

Authors: Velde, K Joeri van der¹, Imhann, Floris², Charbon, Bart³, Pang, Chao³, Enckevort, David van³, Slofstra, Mariska³, Barbieri, Ruggero², Alberts, Rudi², Hendriksen, Dennis³, Kelpin, Fleur³, Haan, Mark de³, Boer, Tommy de³, Haakma, Sido³, Stroomberg, Connor³, Scholtens, Salome³, van de Geijn, Gert-Jan³, Festen, Eleonora A M², Weersma, Rinse K⁴, Swertz, Morris A¹, m.a.swertz@rug.nl

Source: Bioinformatics; 3/15/2019, Vol. 35 Issue 6, p1076-1078, 3p

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

Authors: Chao Pang, Sollie, Annet, Sijtsma, Anna, Hendriksen, Dennis, Charbon, Bart, de Haan, Mark, de Boer, Tommy, Kelpin, Fleur, Jetten, Jonathan, van der Velde, Joeri K., Smidt, Nynke, Sijmons, Rolf, Hillege, Hans, Swertz, Morris A.

Source: Database: The Journal of Biological Databases & Curation; 2015, Vol. 2015, p1-13, 13p, 3 Color Photographs, 5 Charts, 2 Graphs