Research output per year
Research output per year
Personal profile
Research interests
I am primarily interested in improving the diagnostic yield of genome sequencing of patients who have a rare disease. I do this by integrating population genetics and transcriptomics.
Education/Academic qualification
University of Groningen
27-Aug-2012 → 6-May-2019
Award Date: 6-May-2019
Vrije Universiteit Amsterdam, Amsterdam
2010 → 2012
Hanze University
2006 → 2010
Network
Recent external collaboration on country level. Dive into details by clicking on the dots or
Research output
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Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis
Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J. & 7 others, , 28-Jun-2019, In : Nature Communications. 10, 1, 13 p., 2837.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Identification of context-dependent expression quantitative trait loci in whole blood
Pital-Zhernakova, D., Deelen, P., Vermaat, M., van Iterson, M., van Galen, M., Arindrarto, W., van 't Hof, P., Mei, H., van Dijk, F., Westra, H-J., Bonder, M. J., van Rooij, J., Verkerk, M., Jhamai, P. M., Moed, M., Kielbasa, S. M., Bot, J., Nooren, I., Pool, R., van Dongen, J. & 27 others, , Jan-2017, In : Nature Genetics. 49, 1, p. 139-145 7 p.Research output: Contribution to journal › Letter › Academic › peer-review
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Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels
Deelen, P., Zhernakova, D. V., de Haan, M., van der Sijde, M., Bonder, M. J., Karjalainen, J., van der Velde, K. J., Abbott, K. M., Fu, J., Wijmenga, C., Sinke, R. J., Swertz, M. A. & Franke, L., 27-Mar-2015, In : Genome medicine. 7, 1, 13 p., 30.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A characterization of cis- and trans-heritability of RNA-Seq-based gene expression
BIOS Consortium, Ouwens, K. G., Jansen, R., Nivard, M. G., van Dongen, J., Frieser, M. J., Hottenga, J-J., Arindrarto, W., Claringbould, A., van Iterson, M., Mei, H. & Franke, L., Feb-2020, In : European Journal of Human Genetics. 28, 2, p. 253-263 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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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 journal › Article › Academic › peer-review
Open AccessFile