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@ARTICLE{Baumann:300248,
      author       = {A. A. Baumann and L. I. Knol and M. Arlt and T.
                      Hutschenreiter and A. Richter and T. J. Widmann and M.
                      Franke and K. Hackmann and S. Winkler and D. Richter$^*$ and
                      I. Spier and S. Aretz and D. Aust and J. Porrmann and D.
                      William and E. Schröck$^*$ and H. Glimm$^*$ and A. Jahn},
      title        = {{L}ong-read genome and {RNA} sequencing resolve a
                      pathogenic intronic germline {LINE}-1 insertion in {APC}.},
      journal      = {npj Genomic Medicine},
      volume       = {10},
      number       = {1},
      issn         = {2056-7944},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2025-00709},
      pages        = {30},
      year         = {2025},
      abstract     = {Familial adenomatous polyposis (FAP) is caused by
                      pathogenic germline variants in the tumor suppressor gene
                      APC. Confirmation of diagnosis was not achieved by cancer
                      gene panel and exome sequencing or custom array-CGH in a
                      family with suspected FAP across five generations. Long-read
                      genome sequencing (PacBio), short-read genome sequencing
                      (Illumina), short-read RNA sequencing, and further
                      validations were performed in different tissues of multiple
                      family members. Long-read genome sequencing resolved a 6 kb
                      full-length intronic insertion of a heterozygous LINE-1
                      element between exons 7 and 8 of APC that could be detected
                      but not fully resolved by short-read genome sequencing.
                      Targeted RNA analysis revealed aberrant splicing resulting
                      in the formation of a pseudo-exon with a premature stop
                      codon. The variant segregated with the phenotype in several
                      family members allowing its evaluation as likely pathogenic.
                      This study supports the utility of long-read DNA sequencing
                      and complementary RNA approaches to tackle unsolved cases of
                      hereditary disease.},
      cin          = {DD01},
      ddc          = {610},
      cid          = {I:(DE-He78)DD01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40180948},
      doi          = {DOI:10.1038/s41525-025-00485-5},
      url          = {https://inrepo02.dkfz.de/record/300248},
}