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Distinct mechanisms of CNV formation at the human 15q13.3 locus.

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Title: Distinct mechanisms of CNV formation at the human 15q13.3 locus.
Authors: Höps W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; These authors contributed equally., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; These authors contributed equally., Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., de Groot M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Caro P; Institute of Human Genetics, Heidelberg University and Heidelberg University Hospital, Heidelberg, Germany., De Falco A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy., Schaaf CP; Institute of Human Genetics, Heidelberg University and Heidelberg University Hospital, Heidelberg, Germany., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Senior author., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Senior author.; Lead contact.
Corporate Authors: Human Pangenome Reference Consortium (HPRC)
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 05. Date of Electronic Publication: 2026 Mar 05.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Distinct mechanisms of CNV formation at the human 15q13.3 locus.
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  Data: <searchLink fieldCode="AU" term="%22Höps+W%22">Höps W</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Porubsky+D%22">Porubsky D</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Yoo+D%22">Yoo D</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22de+Groot+M%22">de Groot M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22den+Ouden+A%22">den Ouden A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Derks+R%22">Derks R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoekzema+K%22">Hoekzema K</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Yntema+HG%22">Yntema HG</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Caro+P%22">Caro P</searchLink>; Institute of Human Genetics, Heidelberg University and Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22De+Falco+A%22">De Falco A</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.<br /><searchLink fieldCode="AU" term="%22van+Bon+B%22">van Bon B</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Schaaf+CP%22">Schaaf CP</searchLink>; Institute of Human Genetics, Heidelberg University and Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Senior author.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Senior author.; Lead contact.
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