The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review by Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

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Feasibility of predicting allele specific expression from DNA sequencing using machine learning by Zhenhua Zhang, Freerk van Dijk, Niek de Klein, Mariëlle E van Gijn, Lude H Franke, Richard J Sinke, Morris A Swertz, K Joeri van der Velde

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NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing by Lennart F. Johansson, Hendrik A. de Weerd, Eddy N. de Boer, Freerk van Dijk, Gerard J. te Meerman, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Morris A. Swertz

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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability by Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts

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Ten quick tips for building FAIR workflows by Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A. Swertz, Peter A. C. ‘t Hoen, Anna Niehues

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

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

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reGenotyper: Detecting mislabeled samples in genetic data. by Konrad Zych, Basten L Snoek, Mark Elvin, Miriam Rodriguez, K Joeri Van der Velde, Danny Arends, Harm-Jan Westra, Morris A Swertz, Gino Poulin, Jan E Kammenga, Rainer Breitling, Ritsert C Jansen, Yang Li

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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa by Franciscus C. Vermeer, Jeroen Bremer, Robert J. Sietsma, Aileen Sandilands, Robyn P. Hickerson, Marieke C. Bolling, Anna M.G. Pasmooij, Henny H. Lemmink, Morris A. Swertz, Nine V.A.M. Knoers, K. Joeri van der Velde, Peter C. van den Akker

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Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries by Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos

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A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR by Philip van Damme, Pablo Alarcón Moreno, César H. Bernabé, Alberto Cámara Ballesteros, Clémence M. A. Le Cornec, Bruna Dos Santos Vieira, K. Joeri van der Velde, Shuxin Zhang, Claudio Carta, Ronald Cornet, Peter A.C. ’t Hoen, Annika Jacobsen, Morris A. Swertz, Marco Roos, Nirupama Benis

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Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data by Shuang Li, Katharina T. Schmid, Dylan H. de Vries, Maryna Korshevniuk, Corinna Losert, Roy Oelen, Irene V. van Blokland, BIOS Consortium, sc-eQTLgen Consortium, Hilde E. Groot, Morris A. Swertz, Pim van der Harst, Harm-Jan Westra, Monique G.P. van der Wijst, Matthias Heinig, Lude Franke

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Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. by Tessel E Galesloot, Niek Verweij, Michela Traglia, Caterina Barbieri, Freerk van Dijk, Anneke J Geurts-Moespot, Domenico Girelli, Lambertus A L M Kiemeney, Fred C G J Sweep, Morris A Swertz, Peter van der Meer, Clara Camaschella, Daniela Toniolo, Sita H Vermeulen, Pim van der Harst, Dorine W Swinkels

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Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. by Janice L Farlow, Hai Lin, Laura Sauerbeck, Dongbing Lai, Daniel L Koller, Elizabeth Pugh, Kurt Hetrick, Hua Ling, Rachel Kleinloog, Pieter van der Vlies, Patrick Deelen, Morris A Swertz, Bon H Verweij, Luca Regli, Gabriel J E Rinkel, Ynte M Ruigrok, Kimberly Doheny, Yunlong Liu, Joseph Broderick, Tatiana Foroud, FIA Study Investigators

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

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Altered and allele-specific open chromatin landscape reveals epigenetic and genetic regulators of innate immunity in COVID-19 by Bowen Zhang, Zhenhua Zhang, Valerie A.C.M. Koeken, Saumya Kumar, Michelle Aillaud, Hsin-Chieh Tsay, Zhaoli Liu, Anke R.M. Kraft, Chai Fen Soon, Ivan Odak, Berislav Bošnjak, Anna Vlot, Morris A. Swertz, Uwe Ohler, Robert Geffers, Thomas Illig, Jochen Huehn, Antoine-Emmanuel Saliba, Leif Erik Sander, Reinhold Förster, Cheng-Jian Xu, Markus Cornberg, Leon N. Schulte, Yang Li

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

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

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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved] by David Salgado, Irina M. Armean, Michael Baudis, Sergi Beltran, Salvador Capella-Gutierrez, Denise Carvalho-Silva, Victoria Dominguez Del Angel, Joaquin Dopazo, Laura I. Furlong, Bo Gao, Leyla Garcia, Dietlind Gerloff, Ivo Gut, Attila Gyenesei, Nina Habermann, John M. Hancock, Marc Hanauer, Eivind Hovig, Lennart F. Johansson, Thomas Keane, Jan Korbel, Katharina B. Lauer, Steve Laurie, Brane Leskošek, David Lloyd, Tomas Marques-Bonet, Hailiang Mei, Katalin Monostory, Janet Piñero, Krzysztof Poterlowicz, Ana Rath, Pubudu Samarakoon, Ferran Sanz, Gary Saunders, Daoud Sie, Morris A. Swertz, Kirill Tsukanov, Alfonso Valencia, Marko Vidak, Cristina Yenyxe González, Bauke Ylstra, Christophe Béroud

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