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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
Kaliyaperumal R, Wilkinson MD, Moreno PA, Benis N, Cornet R, Dos Santos Vieira B, Dumontier M, Bernabé CH, Jacobsen A, Le Cornec CMA, Godoy MP, Queralt-Rosinach N, Schultze Kool LJ, Swertz MA, van Damme P, van der Velde KJ, Lalout N, Zhang S, Roos M. Kaliyaperumal R, et al. Among authors: swertz ma. J Biomed Semantics. 2022 Mar 15;13(1):9. doi: 10.1186/s13326-022-00264-6. J Biomed Semantics. 2022. PMID: 35292119 Free PMC article.
xQTL workbench: a scalable web environment for multi-level QTL analysis.
Arends D, van der Velde KJ, Prins P, Broman KW, Möller S, Jansen RC, Swertz MA. Arends D, et al. Among authors: swertz ma. Bioinformatics. 2012 Apr 1;28(7):1042-4. doi: 10.1093/bioinformatics/bts049. Epub 2012 Feb 3. Bioinformatics. 2012. PMID: 22308096 Free PMC article.
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels.
Deelen P, Zhernakova DV, de Haan M, van der Sijde M, Bonder MJ, Karjalainen J, van der Velde KJ, Abbott KM, Fu J, Wijmenga C, Sinke RJ, Swertz MA, Franke L. Deelen P, et al. Among authors: swertz ma. Genome Med. 2015 Mar 27;7(1):30. doi: 10.1186/s13073-015-0152-4. eCollection 2015. Genome Med. 2015. PMID: 25954321 Free PMC article.
The FAIR Guiding Principles for scientific data management and stewardship.
Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, Blomberg N, Boiten JW, da Silva Santos LB, Bourne PE, Bouwman J, Brookes AJ, Clark T, Crosas M, Dillo I, Dumon O, Edmunds S, Evelo CT, Finkers R, Gonzalez-Beltran A, Gray AJ, Groth P, Goble C, Grethe JS, Heringa J, 't Hoen PA, Hooft R, Kuhn T, Kok R, Kok J, Lusher SJ, Martone ME, Mons A, Packer AL, Persson B, Rocca-Serra P, Roos M, van Schaik R, Sansone SA, Schultes E, Sengstag T, Slater T, Strawn G, Swertz MA, Thompson M, van der Lei J, van Mulligen E, Velterop J, Waagmeester A, Wittenburg P, Wolstencroft K, Zhao J, Mons B. Wilkinson MD, et al. Among authors: swertz ma. Sci Data. 2016 Mar 15;3:160018. doi: 10.1038/sdata.2016.18. Sci Data. 2016. PMID: 26978244 Free PMC article.
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, van der Velde KJ, Doiron D, Fortier I, Hillege H, Swertz MA. Pang C, et al. Among authors: swertz ma. Bioinformatics. 2016 Jul 15;32(14):2176-83. doi: 10.1093/bioinformatics/btw155. Epub 2016 Mar 21. Bioinformatics. 2016. PMID: 27153686 Free PMC article.
226 results