Linked-read based analysis of the medulloblastoma genome.

Melissa Zwaig,Michael J Johnston,John J Y Lee,Hamza Farooq,Marco Gallo,Nada Jabado,Michael D Taylor,Jiannis Ragoussis

Frontiers in oncology（2023）

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摘要

We detected several enhancer-hijacking events, an ecDNA containing the gene, and rare structural rearrangements, such a chromothripsis in a G4 medulloblastoma, chromoplexy involving 8 different chromosomes, a gene rearrangement, and a duplication.

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关键词

medulloblastoma,linked-reads,enhancer hijacking,extrachromosomal DNA,whole-genome sequencing,RNA sequencing

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