Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.
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| Title: | Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC. |
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| Authors: | Baumann AA; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Knol LI; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; Department of Translational Medical Oncology, NCT Dresden and DKFZ, Dresden, Germany.; Translational Medical Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany., Arlt M; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Hutschenreiter T; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Richter A; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Widmann TJ; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), PTS Granada, managed by Fundación Pública Andaluza Progreso y Salud (FPS), Granada, Spain., Franke M; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Hackmann K; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Winkler S; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Richter D; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; Department of Translational Medical Oncology, NCT Dresden and DKFZ, Dresden, Germany.; Translational Medical Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.; German Cancer Consortium (DKTK), Dresden, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany., Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Aust D; Institute of Pathology, University Hospital Carl Gustav Carus at TUD Dresden University, Dresden, Germany.; Tumor- and Normal Tissue Bank of the University Cancer Center (UCC), University Hospital Carl Gustav Carus, Medical Faculty, TUD Dresden University of Technology, Dresden, Germany., Porrmann J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., William D; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany., Schröck E; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany.; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.; German Cancer Consortium (DKTK), Dresden, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany., Glimm H; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.; Department of Translational Medical Oncology, NCT Dresden and DKFZ, Dresden, Germany.; Translational Medical Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.; German Cancer Consortium (DKTK), Dresden, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.; Center for Personalized Oncology, NCT Dresden and University Hospital Carl Gustav Carus, Faculty of Medicine and TUD Dresden University of Technology, Dresden, Germany.; Translational Functional Cancer Genomics, NCT Heidelberg and DKFZ, Heidelberg, Germany., Jahn A; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany. Arne.Jahn@ukdd.de.; National Center for Tumor Diseases (NCT), NCT/UCC Dresden,, a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany. Arne.Jahn@ukdd.de.; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Dresden, Germany. Arne.Jahn@ukdd.de.; German Cancer Consortium (DKTK), Dresden, Germany. Arne.Jahn@ukdd.de.; German Cancer Research Center (DKFZ), Heidelberg, Germany. Arne.Jahn@ukdd.de. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Apr 04; Vol. 10 (1), pp. 30. Date of Electronic Publication: 2025 Apr 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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