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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

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Title: A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Authors: Schuy J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Sæther KB; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ek M; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Lun MY; Pacific Northwest Research Institute, Seattle, WA., Hastie A; Bionano Genomics, San Diego, CA., Rudolph S; Gemeinschaftspraxis für Humangenetik und Genetische Labore, Hamburg, Germany., Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; University Heidelberg, Institute of Human Genetics, Heidelberg, Germany., Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Pettersson M; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA., Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.
Source: Genetics in medicine open [Genet Med Open] 2024 Jun 28; Vol. 2, pp. 101863. Date of Electronic Publication: 2024 Jun 28 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
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  Data: <searchLink fieldCode="AU" term="%22Schuy+J%22">Schuy J</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Sæther+KB%22">Sæther KB</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.<br /><searchLink fieldCode="AU" term="%22Lisfeld+J%22">Lisfeld J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Ek+M%22">Ek M</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Grochowski+CM%22">Grochowski CM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Lun+MY%22">Lun MY</searchLink>; Pacific Northwest Research Institute, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Hastie+A%22">Hastie A</searchLink>; Bionano Genomics, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Rudolph+S%22">Rudolph S</searchLink>; Gemeinschaftspraxis für Humangenetik und Genetische Labore, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Fuchs+S%22">Fuchs S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Neveling+K%22">Neveling K</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; University Heidelberg, Institute of Human Genetics, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pettersson+M%22">Pettersson M</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Carvalho+CMB%22">Carvalho CMB</searchLink>; Pacific Northwest Research Institute, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Eisfeldt+J%22">Eisfeldt J</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.
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