GAVIN: Gene-Aware Variant INterpretation for medical sequencing von 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

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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa von 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.

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

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Rapid Targeted Genomics in Critically Ill Newborns von van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Bergman, Klasien A, de Koning, Tom J, Sikkema-Raddatz, Birgit, van der Velde, Joeri K, Abbott, Kristin M, Herkert, Johanna C, Löhner, Katharina, Rump, Patrick, Meems-Veldhuis, Martine T, Neerincx, Pieter B T, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M, Swertz, Morris A, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca

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Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis von Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C., Karjalainen, Juha M., Brugge, Harm, Abbott, Kristin M., van Diemen, Cleo C., van der Zwaag, Paul A., Gerkes, Erica H., Zonneveld-Huijssoon, Evelien, Boer-Bergsma, Jelkje J., Folkertsma, Pytrik, Gillett, Tessa, van der Velde, K. Joeri, Kanninga, Roan, van den Akker, Peter C., Jan, Sabrina Z., Hoorntje, Edgar T., te Rijdt, Wouter P., Vos, Yvonne J., Jongbloed, Jan D. H., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard, Sikkema-Raddatz, Birgit, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Franke, Lude

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OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript von Adamusiak, Tomasz, Burdett, Tony, Kurbatova, Natalja, Joeri van der Velde, K, Abeygunawardena, Niran, Antonakaki, Despoina, Kapushesky, Misha, Parkinson, Helen, Swertz, Morris A

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Ten quick tips for building FAIR workflows von de Visser, Casper, Johansson, Lennart F, Kulkarni, Purva, Mei, Hailiang, Neerincx, Pieter, Joeri van der Velde, K, Horvatovich, Péter, van Gool, Alain J, Swertz, Morris A, Hoen, Peter A. C. 't, Niehues, Anna

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

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Novel Rare Genetic Variants Associated with Airflow Obstruction in the General Population von de Vries, Maaike, van der Plaat, Diana A., Nedeljkovic, Ivana, van der Velde, K. Joeri, Amin, Najaf, Vonk, Judith M., Boezen, H. Marike, van Diemen, Cleo C.

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

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The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button von Swertz, Morris A, Dijkstra, Martijn, Adamusiak, Tomasz, van der Velde, Joeri K, Kanterakis, Alexandros, Roos, Erik T, Lops, Joris, Thorisson, Gudmundur A, Arends, Danny, Byelas, George, Muilu, Juha, Brookes, Anthony J, de Brock, Engbert O, Jansen, Ritsert C, Parkinson, Helen

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BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing von Pang, Chao, Hendriksen, Dennis, Dijkstra, Martijn, van der Velde, K Joeri, Kuiper, Joel, Hillege, Hans L, Swertz, Morris A

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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data von Kaliyaperumal, Rajaram, Wilkinson, Mark D, Moreno, Pablo Alarcón, Benis, Nirupama, Cornet, Ronald, Dos Santos Vieira, Bruna, Dumontier, Michel, Bernabé, César Henrique, Jacobsen, Annika, Le Cornec, Clémence M A, Godoy, Mario Prieto, Queralt-Rosinach, Núria, Schultze Kool, Leo J, Swertz, Morris A, van Damme, Philip, van der Velde, K Joeri, Lalout, Nawel, Zhang, Shuxin, Roos, Marco

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

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reGenotyper: Detecting mislabeled samples in genetic data von 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

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FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research von van der Velde, K. Joeri, Singh, Gurnoor, Kaliyaperumal, Rajaram, Liao, XiaoFeng, de Ridder, Sander, Rebers, Susanne, Kerstens, Hindrik H. D., de Andrade, Fernanda, van Reeuwijk, Jeroen, De Gruyter, Fini E., Hiltemann, Saskia, Ligtvoet, Maarten, Weiss, Marjan M., van Deutekom, Hanneke W. M., Jansen, Anne M. L., Stubbs, Andrew P., Vissers, Lisenka E. L. M., Laros, Jeroen F. J., van Enckevort, Esther, Stemkens, Daphne, ‘t Hoen, Peter A. C., Beliën, Jeroen A. M., van Gijn, Mariëlle E., Swertz, Morris A.

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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy von Hoorntje, Edgar T, Posafalvi, Anna, Syrris, Petros, van der Velde, K Joeri, Bolling, Marieke C, Protonotarios, Alexandros, Boven, Ludolf G, Amat-Codina, Nuria, Groeneweg, Judith A, Wilde, Arthur A, Sobreira, Nara, Calkins, Hugh, Hauer, Richard N W, Jonkman, Marcel F, McKenna, William J, Elliott, Perry M, Sinke, Richard J, van den Berg, Maarten P, Chelko, Stephen P, James, Cynthia A, van Tintelen, J Peter, Judge, Daniel P, Jongbloed, Jan D H

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MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update von Dhekne, Herschel S., Pylypenko, Olena, Overeem, Arend W., Ferreira, Rosaria J., der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris A., Houdusse, Anne, IJzendoorn, Sven C.D.

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

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A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature von Velde, K. Joeri, Hoek, Sander, Dijk, Freerk, Hendriksen, Dennis, Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.

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