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@ARTICLE{Smirnov:294669,
      author       = {P. Smirnov$^*$ and M. J. Przybilla$^*$ and M.
                      Simovic-Lorenz$^*$ and R. G. Parra$^*$ and H. Susak$^*$ and
                      M. Aichmüller-Ratnaparkhe$^*$ and J. K. Wong$^*$ and V.
                      Körber$^*$ and J.-P. Mallm$^*$ and G. Philippos$^*$ and M.
                      Sill$^*$ and T. Kolb$^*$ and R. Kumar$^*$ and N.
                      Casiraghi$^*$ and K. Okonechnikov$^*$ and D. R. Ghasemi$^*$
                      and K. K. Maaß$^*$ and K. Pajtler$^*$ and A. Jauch and A.
                      Korshunov$^*$ and T. Höfer$^*$ and M. Zapatka$^*$ and S.
                      Pfister$^*$ and W. Huber and O. Stegle$^*$ and A. Ernst$^*$},
      title        = {{M}ulti-omic and single-cell profiling of chromothriptic
                      medulloblastoma reveals genomic and transcriptomic
                      consequences of genome instability.},
      journal      = {Nature Communications},
      volume       = {15},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2024-02404},
      pages        = {10183},
      year         = {2024},
      note         = {#EA:B420#EA:B260#LA:B420#LA:B260#},
      abstract     = {Chromothripsis is a frequent form of genome instability,
                      whereby a presumably single catastrophic event generates
                      extensive genomic rearrangements of one or multiple
                      chromosome(s). However, little is known about the
                      heterogeneity of chromothripsis across different clones from
                      the same tumour, as well as changes in response to
                      treatment. Here we analyse single-cell genomic and
                      transcriptomic alterations linked with chromothripsis in
                      human p53-deficient medulloblastoma and neural stem cells (n
                      = 9). We reconstruct the order of somatic events, identify
                      early alterations likely linked to chromothripsis and depict
                      the contribution of chromothripsis to malignancy. We
                      characterise subclonal variation of chromothripsis and its
                      effects on extrachromosomal circular DNA, cancer drivers and
                      putatively druggable targets. Furthermore, we highlight the
                      causative role and the fitness consequences of specific
                      rearrangements in neural progenitors.},
      keywords     = {Medulloblastoma: genetics / Medulloblastoma: pathology /
                      Humans / Genomic Instability / Single-Cell Analysis: methods
                      / Chromothripsis / Transcriptome / Cerebellar Neoplasms:
                      genetics / Cerebellar Neoplasms: pathology / Genomics:
                      methods / Neural Stem Cells: metabolism / Tumor Suppressor
                      Protein p53: genetics / Tumor Suppressor Protein p53:
                      metabolism / Gene Expression Profiling: methods / Male /
                      Female / Multiomics / Tumor Suppressor Protein p53 (NLM
                      Chemicals)},
      cin          = {B420 / HD01 / B260 / B060 / B086 / W192 / B062 / B300},
      ddc          = {500},
      cid          = {I:(DE-He78)B420-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B260-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B086-20160331 / I:(DE-He78)W192-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B300-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39580568},
      doi          = {10.1038/s41467-024-54547-w},
      url          = {https://inrepo02.dkfz.de/record/294669},
}