MOLGENIS/OMX for multi-omics and personalized medicine

por Swertz, Morris, van der Velde, K Joeri
Publicado 2015

BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing

por Pang, Chao, Hendriksen, Dennis, Dijkstra, Martijn, van der Velde, K Joeri, Kuiper, Joel, Hillege, Hans L, Swertz, Morris A
Publicado 2015

xQTL workbench: a scalable web environment for multi-level QTL analysis

por Arends, Danny, van der Velde, K. Joeri, Prins, Pjotr, Broman, Karl W., Möller, Steffen, Jansen, Ritsert C., Swertz, Morris A.
Publicado 2012

Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration

por Deelen, Patrick, Bonder, Marc Jan, van der Velde, K Joeri, Westra, Harm-Jan, Winder, Erwin, Hendriksen, Dennis, Franke, Lude, Swertz, Morris A
Publicado 2014

Bioinformatics tools and database resources for systems genetics analysis in mice—a short review and an evaluation of future needs

por Durrant, Caroline, Swertz, Morris A., Alberts, Rudi, Arends, Danny, Möller, Steffen, Mott, Richard, Prins, Pjotr, van der Velde, K. Joeri, Jansen, Ritsert C., Schughart, Klaus
Publicado 2012

WormQTL(HD)—a web database for linking human disease to natural variation data in C. elegans

por van der Velde, K. Joeri, de Haan, Mark, Zych, Konrad, Arends, Danny, Snoek, L. Basten, Kammenga, Jan E., Jansen, Ritsert C., Swertz, Morris A., Li, Yang
Publicado 2014

Feasibility of predicting allele specific expression from DNA sequencing using machine learning

por Zhang, Zhenhua, van Dijk, Freerk, de Klein, Niek, van Gijn, Mariëlle E, Franke, Lude H, Sinke, Richard J, Swertz, Morris A, van der Velde, K Joeri
Publicado 2021

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

por Alimohamed, Mohamed Z., Westers, Helga, Vos, Yvonne J., Van der Velde, K. Joeri, Sijmons, Rolf H., Van der Zwaag, Paul A., Sikkema-Raddatz, Birgit, Jongbloed, Jan D. H.
Publicado 2022

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

por Dhekne, Herschel S., Pylypenko, Olena, Overeem, Arend W., Ferreira, Rosaria J., van der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris A., Houdusse, Anne, van IJzendoorn, Sven C.D.
Publicado 2018

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

por van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.
Publicado 2020

reGenotyper: Detecting mislabeled samples in genetic data

por Zych, Konrad, Snoek, Basten L., Elvin, Mark, Rodriguez, Miriam, Van der Velde, K. Joeri, Arends, Danny, Westra, Harm-Jan, Swertz, Morris A., Poulin, Gino, Kammenga, Jan E., Breitling, Rainer, Jansen, Ritsert C., Li, Yang
Publicado 2017

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

por Pang, Chao, van Enckevort, David, de Haan, Mark, Kelpin, Fleur, Jetten, Jonathan, Hendriksen, Dennis, de Boer, Tommy, Charbon, Bart, Winder, Erwin, van der Velde, K. Joeri, Doiron, Dany, Fortier, Isabel, Hillege, Hans, Swertz, Morris A.
Publicado 2016

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

por Deelen, Patrick, Zhernakova, Daria V, de Haan, Mark, van der Sijde, Marijke, Bonder, Marc Jan, Karjalainen, Juha, van der Velde, K Joeri, Abbott, Kristin M, Fu, Jingyuan, Wijmenga, Cisca, Sinke, Richard J, Swertz, Morris A, Franke, Lude
Publicado 2015

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

por Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Publicado 2021

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

por van der Velde, K. Joeri, de Boer, Eddy N., van Diemen, Cleo C., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Knopperts, Alain, Franke, Lude, Sijmons, Rolf H., de Koning, Tom J., Wijmenga, Cisca, Sinke, Richard J., Swertz, Morris A.
Publicado 2017

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

por Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.
Publicado 2021

WormQTL—public archive and analysis web portal for natural variation data in Caenorhabditis spp

por Snoek, L. Basten, Van der Velde, K. Joeri, Arends, Danny, Li, Yang, Beyer, Antje, Elvin, Mark, Fisher, Jasmin, Hajnal, Alex, Hengartner, Michael O., Poulin, Gino B., Rodriguez, Miriam, Schmid, Tobias, Schrimpf, Sabine, Xue, Feng, Jansen, Ritsert C., Kammenga, Jan E., Swertz, Morris A.
Publicado 2013

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

por dos Santos Vieira, Bruna, Bernabé, César H., Zhang, Shuxin, Abaza, Haitham, Benis, Nirupama, Cámara, Alberto, Cornet, Ronald, Le Cornec, Clémence M. A., ’t Hoen, Peter A. C., Schaefer, Franz, van der Velde, K. Joeri, Swertz, Morris A., Wilkinson, Mark D., Jacobsen, Annika, Roos, Marco
Publicado 2022

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

por van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John‐Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.
Publicado 2015

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

por 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.
Publicado 2020