Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories by Adam C. Smith, Alexander Hoischen, Gordana Raca

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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* by Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

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Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19 by Caspar I. van der Made, Mihai G. Netea, Frank L. van der Veerdonk, Alexander Hoischen

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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing by François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas

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Pro-inflammatory Monocyte Phenotype During Acute Progression of Cerebral Small Vessel Disease by Marlies P. Noz, Annemieke ter Telgte, Kim Wiegertjes, Anil M. Tuladhar, Charlotte Kaffa, Simone Kersten, Simone Kersten, Siroon Bekkering, Charlotte D. C. C. van der Heijden, Alexander Hoischen, Alexander Hoischen, Leo A. B. Joosten, Leo A. B. Joosten, Mihai G. Netea, Mihai G. Netea, Marco Duering, Marco Duering, Marco Duering, Frank-Erik de Leeuw, Niels P. Riksen

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Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 by Xavier Solanich, Gardenia Vargas-Parra, Gardenia Vargas-Parra, Caspar I. van der Made, Caspar I. van der Made, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Manel Esteller, Manel Esteller, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Gabriel Capellá, Frank L. van de Veerdonk, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Xavier Corbella, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Conxi Lázaro, Conxi Lázaro

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Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity by Helin Tercan, Benjamin C. Cossins, Rosanne C. van Deuren, Joost H. W. Rutten, Leo A. B. Joosten, Mihai G. Netea, Alexander Hoischen, Siroon Bekkering, Niels P. Riksen

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing by Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium

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Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View by Maurits A. Sikking, Sophie L. V. M. Stroeks, Olivia J. Waring, Michiel T. H. M. Henkens, Niels P. Riksen, Alexander Hoischen, Stephane R. B. Heymans, Job A. J. Verdonschot

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Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease by Mihaela I. Dregoesc, Helin Tercan, Adrian B. Țigu, Siroon Bekkering, Leo AB. Joosten, Mihai G. Netea, Rosanne C. van Deuren, Alexander Hoischen, Niels P. Riksen, Adrian C. Iancu

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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation by Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

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Novel GANAB variants associated with polycystic liver disease by Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth

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SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation by Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen

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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. by Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs

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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation by Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers

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Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses by Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer, Maartje van de Vorst, Christian Gilissen, Leo A. B. Joosten, Charles A. Dinarello, Musa M. Mhlanga, Vinod Kumar, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen

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Comprehensive de novo mutation discovery with HiFi long-read sequencing by Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen

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Genetic Predisposition to Neurological Complications in Patients with COVID-19 by Nikhil Shri Sahajpal, Alex R. Hastie, Maximilian Schieck, Ashis K. Mondal, Marc Felde, Caspar I. van der Made, Janet S. Chou, Adrienne G. Randolph, Thomas Illig, Michael C. Zody, Catherine A. Brownstein, Alan H. Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe

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STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. by Sanne P Smeekens, Theo S Plantinga, Frank L van de Veerdonk, Bas Heinhuis, Alexander Hoischen, Leo A B Joosten, Peter D Arkwright, Andrew Gennery, Bart Jan Kullberg, Joris A Veltman, Desa Lilic, Jos W M van der Meer, Mihai G Netea

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Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context by Johanna C. Andersson-Assarsson, Rosanne C. van Deuren, Felipe M. Kristensson, Marloes Steehouwer, Kajsa Sjöholm, Per-Arne Svensson, Marc Pieterse, Christian Gilissen, Magdalena Taube, Peter Jacobson, Rosie Perkins, Han G. Brunner, Mihai G. Netea, Markku Peltonen, Björn Carlsson, Alexander Hoischen, Lena M.S. Carlsson

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