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Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors.

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第一作者： Ianthe A E M,van Belzen

第一单位： Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

作者： Ianthe A E M,van Belzen ^[1] ; Marc,van Tuil ^[1] ; Shashi,Badloe ^[1] ; Alex,Janse ^[1] ; Eugène T P,Verwiel ^[1] ; Marcel,Santoso ^[1] ; Sam,de Vos ^[1] ; John,Baker-Hernandez ^[1] ; Hindrik H D,Kerstens ^[1] ; Nienke,Solleveld-Westerink ^[2] ; Michael T,Meister ^[3] ; Jarno,Drost ^[3] ; Marry M,van den Heuvel-Eibrink ^[4] ; Johannes H M,Merks ^[5] ; Jan J,Molenaar ^[6] ; Weng Chuan,Peng ^[1] ; Bastiaan B J,Tops ^[1] ; Frank C P,Holstege ^[1] ; Patrick,Kemmeren ^[7] ; Jayne Y,Hehir-Kwa ^[8]

作者单位： Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. ^[1] Department of Pathology, UMC Utrecht, Utrecht, the Netherlands. ^[2] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht, the Netherlands. ^[3] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; UMC Utrecht-Wilhelmina Children's Hospital-Child Health, Utrecht, the Netherlands. ^[4] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Division of Imaging and Oncology, UMC Utrecht and Utrecht University, Utrecht, the Netherlands. ^[5] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands. ^[6] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Center for Molecular Medicine, UMC Utrecht and Utrecht University, Utrecht, the Netherlands. Electronic address: p.kemmeren@prinsesmaximacentrum.nl. ^[7] Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Electronic address: j.y.hehirkwa@prinsesmaximacentrum.nl. ^[8]

关键词 CGRs WGS chromoplexy chromothripsis complex genomic rearrangements complex structural variation ecDNA extrachromosomal DNA pediatric solid tumors whole-genome sequencing