A multi-omic investigation of gene dysregulation in a complex chromothripsis-like translocation event using Oxford Nanopore sequencing
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Using telomere-to-telomere (T2T) assembly with ultra-long reads, ligation-based sequencing, and Pore-C—all from Oxford Nanopore Technologies—alongside cDNA sequencing and direct detection of 5mC/5hmC modifications, a complex chromothripsis-like translocation between chromosomes 2 and 16 was identified and fully resolved.
Download the poster to discover:
How an Oxford Nanopore-only T2T assembly of a complex translocation event revealed genic breakpoints
How transcriptome analysis showed increased expression of fetal gamma-globin genes
How epigenetic analysis identified differential methylation and chromatin regulatory structures near BCL11A
