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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME. Fokkema IFAC, et al. Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31433103 Free PMC article.
Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases.
Kant B, Carbo EC, Kokmeijer I, Oosterman JJM, Frenkel J, Swertz MA, Ploos van Amstel JK, Aróstegui JI, Koudijs MJ, van Gijn ME. Kant B, et al. J Mol Diagn. 2019 Nov;21(6):943-950. doi: 10.1016/j.jmoldx.2019.06.009. Epub 2019 Aug 20. J Mol Diagn. 2019. PMID: 31442672
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments.
Swertz MA, Velde KJ, Tesson BM, Scheltema RA, Arends D, Vera G, Alberts R, Dijkstra M, Schofield P, Schughart K, Hancock JM, Smedley D, Wolstencroft K, Goble C, de Brock EO, Jones AR, Parkinson HE; Coordination of Mouse Informatics Resources (CASIMIR); Genotype-To-Phenotype (GEN2PHEN) Consortiums, Jansen RC. Swertz MA, et al. Genome Biol. 2010;11(3):R27. doi: 10.1186/gb-2010-11-3-r27. Epub 2010 Mar 9. Genome Biol. 2010. PMID: 20214801 Free PMC article.
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.
Swertz MA, Dijkstra M, Adamusiak T, van der Velde JK, Kanterakis A, Roos ET, Lops J, Thorisson GA, Arends D, Byelas G, Muilu J, Brookes AJ, de Brock EO, Jansen RC, Parkinson H. Swertz MA, et al. BMC Bioinformatics. 2010 Dec 21;11 Suppl 12(Suppl 12):S12. doi: 10.1186/1471-2105-11-S12-S12. BMC Bioinformatics. 2010. PMID: 21210979 Free PMC article.
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