Editorial: Long-read sequencing—Pitfalls, benefits and success stories by Inken Wohlers, Shilpa Garg, Shilpa Garg, Jayne Y. Hehir-Kwa

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Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology by Ianthe A. E. M. van Belzen, Alexander Schönhuth, Patrick Kemmeren, Jayne Y. Hehir-Kwa

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Forging links between human mental retardation-associated CNVs and mouse gene knockout models. by Caleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, Bert B A de Vries, Joris A Veltman, Chris P Ponting

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Accurate distinction of pathogenic from benign CNVs in mental retardation. by Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

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Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing by Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa

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Trecode: A FAIR Eco-System for the Analysis and Archiving of Omics Data in a Combined Diagnostic and Research Setting by Hindrik HD Kerstens, Jayne Y Hehir-Kwa, Ellen van de Geer, Chris van Run, Shashi Badloe, Alex Janse, John Baker-Hernandez, Sam de Vos, Douwe van der Leest, Eugène TP Verwiel, Bastiaan BJ Tops, Patrick Kemmeren

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Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience by Judith M. Boer, Uri Ilan, Aurélie Boeree, Karin P. S. Langenberg, Jan Koster, Marco J. Koudijs, Jayne Y. Hehir‐Kwa, Stefan Nierkens, Corinne Rossi, Jan J. Molenaar, Bianca F. Goemans, Monique L. denBoer, C. Michel Zwaan

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Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS by Ianthe A. E. M. van Belzen, Casey Cai, Marc van Tuil, Shashi Badloe, Eric Strengman, Alex Janse, Eugène T. P. Verwiel, Douwe F. M. van der Leest, Lennart Kester, Jan J. Molenaar, Jules Meijerink, Jarno Drost, Weng Chuan Peng, Hindrik H. D. Kerstens, Bastiaan B. J. Tops, Frank C. P. Holstege, Patrick Kemmeren, Jayne Y. Hehir-Kwa

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M&M: an RNA-seq based pan-cancer classifier for paediatric tumoursResearch in context by Fleur S.A. Wallis, John L. Baker-Hernandez, Marc van Tuil, Claudia van Hamersveld, Marco J. Koudijs, Eugène T.P. Verwiel, Alex Janse, Laura S. Hiemcke-Jiwa, Ronald R. de Krijger, Mariëtte E.G. Kranendonk, Marijn A. Vermeulen, Pieter Wesseling, Uta E. Flucke, Valérie de Haas, Maaike Luesink, Eelco W. Hoving, Josef H. Vormoor, Max M. van Noesel, Jayne Y. Hehir-Kwa, Bastiaan B.J. Tops, Patrick Kemmeren, Lennart A. Kester

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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants by Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui, Vyacheslav Koval, Djie Tjwan Thung, René Wardenaar, Ivo Renkens, Bradley P. Coe, Patrick Deelen, Joep de Ligt, Eric-Wubbo Lameijer, Freerk van Dijk, Fereydoun Hormozdiari, The Genome of the Netherlands Consortium, André G. Uitterlinden, Cornelia M. van Duijn, Evan E. Eichler, Paul I. W. de Bakker, Morris A. Swertz, Cisca Wijmenga, Gert-Jan B. van Ommen, P. Eline Slagboom, Dorret I. Boomsma, Alexander Schönhuth, Kai Ye, Victor Guryev

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Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes by Michael T Meister, Marian J A Groot Koerkamp, Terezinha de Souza, Willemijn B Breunis, Ewa Frazer‐Mendelewska, Mariël Brok, Jeff DeMartino, Freek Manders, Camilla Calandrini, Hinri H D Kerstens, Alex Janse, M Emmy M Dolman, Selma Eising, Karin P S Langenberg, Marc van Tuil, Rutger R G Knops, Sheila Terwisscha van Scheltinga, Laura S Hiemcke‐Jiwa, Uta Flucke, Johannes H M Merks, Max M van Noesel, Bastiaan B J Tops, Jayne Y Hehir‐Kwa, Patrick Kemmeren, Jan J Molenaar, Marc van de Wetering, Ruben van Boxtel, Jarno Drost, Frank C P Holstege

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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies by Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans by Ida E. Sønderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J. Armstrong, Manon Bernard, Nicholas B. Blackburn, John Blangero, Dorret I. Boomsma, Henry Brodaty, Rachel M. Brouwer, Robin Bülow, Rune Bøen, Wiepke Cahn, Vince D. Calhoun, Svenja Caspers, Christopher R. K. Ching, Sven Cichon, Simone Ciufolini, Benedicto Crespo-Facorro, Joanne E. Curran, Anders M. Dale, Shareefa Dalvie, Paola Dazzan, Eco J. C. de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Sylvane Desrivieres, Joanne L. Doherty, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Else Eising, Thomas Espeseth, Kim Fejgin, Simon E. Fisher, Tormod Fladby, Oleksandr Frei, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, Tian Ge, David C. Glahn, Hans J. Grabe, Nynke A. Groenewold, Ómar Gústafsson, Jan Haavik, Asta K. Haberg, Jeremy Hall, Ryota Hashimoto, Jayne Y. Hehir-Kwa, Derrek P. Hibar, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Avram J. Holmes, Georg Homuth, Jouke-Jan Hottenga, Hilleke E. Hulshoff Pol, Masashi Ikeda, Neda Jahanshad, Christiane Jockwitz, Stefan Johansson, Erik G. Jönsson, Niklas R. Jørgensen, Masataka Kikuchi, Emma E. M. Knowles, Kuldeep Kumar, Stephanie Le Hellard, Costin Leu, David E. J. Linden, Jingyu Liu, Arvid Lundervold, Astri Johansen Lundervold, Anne M. Maillard, Nicholas G. Martin, Sandra Martin-Brevet, Karen A. Mather, Samuel R. Mathias, Katie L. McMahon, Allan F. McRae, Sarah E. Medland, Andreas Meyer-Lindenberg, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sánchez, Derek W. Morris, Thomas W. Mühleisen, Robin M. Murray, Jacob Nielsen, Jan E. Nordvik, Lars Nyberg, Loes M. Olde Loohuis, Roel A. Ophoff, Michael J. Owen, Tomas Paus, Zdenka Pausova, Juan M. Peralta, G. Bruce Pike, Carlos Prieto, Erin B. Quinlan, Céline S. Reinbold, Tiago Reis Marques, James J. H. Rucker, Perminder S. Sachdev, Sigrid B. Sando, Peter R. Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Ana I. Silva, Sanjay M. Sisodiya, Vidar M. Steen, Dan J. Stein, Lachlan T. Strike, Ikuo K. Suzuki, Christian K. Tamnes, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutiérrez, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van ‘t Ent, Marianne B. M. van den Bree, Pierre Vanderhaeghen, Evangelos Vassos, Wei Wen, Katharina Wittfeld, Margaret J. Wright, Ingrid Agartz, Srdjan Djurovic, Lars T. Westlye, Hreinn Stefansson, Kari Stefansson, Sébastien Jacquemont, Paul M. Thompson, Ole A. Andreassen, for the ENIGMA-CNV working group

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