Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

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• 作者：Sjors Middelkamp ; Sebastiaan van Heesch ; A. Koen Braat ; Joep de Ligt…
• 关键词：Chromothripsis ; Complex genomic rearrangements ; Congenital disorders ; Induced pluripotent stem cells ; Neuronal differentiation ; RNA ; sequencing ; Chromosome conformation capture ; TWIST1 ; Craniosynostosis ; Personal genomics
• 刊名：Genome Medicine
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：9
• 期：1
• 全文大小：2970KB
• 刊物主题：Human Genetics; Metabolomics; Bioinformatics; Medicine/Public Health, general; Cancer Research; Systems Biology;
• 出版者：BioMed Central
• ISSN：1756-994X
• 卷排序：9

文摘

BackgroundGermline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally unknown.