Book/Journal Article

DKFZ-2025-01814

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Combination of Long-Read Sequencing and Hi-C Technology to Identify Chromoanagenesis Events in Cancer.

Klever, M.-K. ; Jungnitsch, J. ; Bullinger, L.DKFZ*

2025
Humana Press Totowa, NJ
ISBN: 978-1-0716-4749-3 (print), 978-1-0716-4750-9 (electronic)

Abstract: Structural variants are of major importance in cancer genetics. Especially when it comes to the detection of complex structural variants as in chromoanagenesis, detection tools like array-CGH, karyotyping, or even whole-genome sequencing do not provide the necessary resolution and/or accuracy. Here, we present a novel structural variant (SV) detection workflow that integrates genomic DNA (gDNA) long-read sequencing and Hi-C sequencing. With this workflow, high-confident SV calling at very high resolution can be archived. Applying it to a cohort of acute myeloid leukemia (AML) with a complex karyotype led to new insights about the actual complexity of chromoanagenesis and can enhance subsequent functional studies of the underlying pathomechanisms.

Keyword(s): Humans (MeSH) ; High-Throughput Nucleotide Sequencing: methods (MeSH) ; Leukemia, Myeloid, Acute: genetics (MeSH) ; Neoplasms: genetics (MeSH) ; Sequence Analysis, DNA: methods (MeSH) ; Genomics: methods (MeSH) ; Acute myeloid leukemia (AML) ; Chromoanagenesis ; Chromothripsis ; Complex karyotype ; Hi-C ; Long-read sequencing ; Structural variants (SV)

---

Contributing Institute(s):

1. DKTK Koordinierungsstelle Berlin (BE01)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025

---

Database coverage:
; SCOPUS

---