TY  - JOUR
AU  - Rausch, Tobias
AU  - Snajder, Rene
AU  - Leger, Adrien
AU  - Simovic, Milena
AU  - Giurgiu, Mădălina
AU  - Villacorta, Laura
AU  - Henssen, Anton G.
AU  - Fröhling, Stefan
AU  - Stegle, Oliver
AU  - Birney, Ewan
AU  - Bonder, Marc Jan
AU  - Ernst, Aurélie
AU  - Korbel, Jan
TI  - Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures
JO  - Cell genomics
VL  - 3
IS  - 4
SN  - 2666-979X
CY  - Amsterdam
PB  - Elsevier
M1  - DKFZ-2023-00751
SP  - 100281
PY  - 2023
N1  - #EA:B260#LA:B420#LA:B480#
AB  - Cancer genomes harbor a broad spectrum of structural variants (SVs) driving tumorigenesis, a relevant subset of which escape discovery using short-read sequencing. We employed Oxford Nanopore Technologies (ONT) long-read sequencing in a paired diagnostic and post-therapy medulloblastoma to unravel the haplotype-resolved somatic genetic and epigenetic landscape. We assembled complex rearrangements, including a 1.55-Mbp chromothripsis event, and we uncover a complex SV pattern termed templated insertion (TI) thread, characterized by short (mostly <1 kb) insertions showing prevalent self-concatenation into highly amplified structures of up to 50 kbp in size. TI threads occur in 3
LB  - PUB:(DE-HGF)16
C6  - pmid:37082141
DO  - DOI:10.1016/j.xgen.2023.100281
UR  - https://inrepo02.dkfz.de/record/275428
ER  -