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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.
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
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  Data: Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.
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  Data: <searchLink fieldCode="AU" term="%22Baumann+AA%22">Baumann AA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Knol+LI%22">Knol LI</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Arlt+M%22">Arlt M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hutschenreiter+T%22">Hutschenreiter T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Richter+A%22">Richter A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Widmann+TJ%22">Widmann TJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Franke+M%22">Franke M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hackmann+K%22">Hackmann K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Winkler+S%22">Winkler S</searchLink>; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Richter+D%22">Richter D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Spier+I%22">Spier I</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Aretz+S%22">Aretz S</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Aust+D%22">Aust D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Porrmann+J%22">Porrmann J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22William+D%22">William D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schröck+E%22">Schröck E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Glimm+H%22">Glimm H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jahn+A%22">Jahn A</searchLink>; 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.
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