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@ARTICLE{Klever:304273,
      author       = {M.-K. Klever and J. Jungnitsch and L. Bullinger$^*$},
      title        = {{C}ombination of {L}ong-{R}ead {S}equencing and {H}i-{C}
                      {T}echnology to {I}dentify {C}hromoanagenesis {E}vents in
                      {C}ancer.},
      journal      = {Methods in molecular biology},
      volume       = {2968},
      issn         = {1064-3745},
      address      = {Totowa, NJ},
      publisher    = {Humana Press},
      reportid     = {DKFZ-2025-01814},
      isbn         = {978-1-0716-4749-3 (print)},
      pages        = {161-172},
      year         = {2025},
      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.},
      keywords     = {Humans / High-Throughput Nucleotide Sequencing: methods /
                      Leukemia, Myeloid, Acute: genetics / Neoplasms: genetics /
                      Sequence Analysis, DNA: methods / Genomics: methods / Acute
                      myeloid leukemia (AML) (Other) / Chromoanagenesis (Other) /
                      Chromothripsis (Other) / Complex karyotype (Other) / Hi-C
                      (Other) / Long-read sequencing (Other) / Structural variants
                      (SV) (Other)},
      cin          = {BE01},
      ddc          = {570},
      cid          = {I:(DE-He78)BE01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)3 / PUB:(DE-HGF)16},
      pubmed       = {pmid:40884643},
      doi          = {DOI:10.1007/978-1-0716-4750-9_9},
      url          = {https://inrepo02.dkfz.de/record/304273},
}