%0 Journal Article
%A Rausch, Tobias
%A Snajder, Rene
%A Leger, Adrien
%A Simovic, Milena
%A Giurgiu, Mădălina
%A Villacorta, Laura
%A Henssen, Anton G.
%A Fröhling, Stefan
%A Stegle, Oliver
%A Birney, Ewan
%A Bonder, Marc Jan
%A Ernst, Aurélie
%A Korbel, Jan
%T Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures
%J Cell genomics
%V 3
%N 4
%@ 2666-979X
%C Amsterdam
%I Elsevier
%M DKFZ-2023-00751
%P 100281
%D 2023
%Z #EA:B260#LA:B420#LA:B480#
%X 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
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37082141
%R 10.1016/j.xgen.2023.100281
%U https://inrepo02.dkfz.de/record/275428