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
Description
ISSN:2949-7744
DOI:10.1016/j.gimo.2024.101863