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Flexible and rapid validation of structural variation using adaptive sampling.

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Title: Flexible and rapid validation of structural variation using adaptive sampling.
Authors: Paivandy A; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Lenner F; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; SciLifeLab, Uppsala University, Uppsala, Sweden., Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Jonson T; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden., Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada., Feuk L; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. lars.feuk@igp.uu.se.; SciLifeLab, Uppsala University, Uppsala, Sweden. lars.feuk@igp.uu.se.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 649-657. Date of Electronic Publication: 2026 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Paivandy+A%22">Paivandy A</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Lenner+F%22">Lenner F</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; SciLifeLab, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Eisfeldt+J%22">Eisfeldt J</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Jonson+T%22">Jonson T</searchLink>; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Ehrencrona+H%22">Ehrencrona H</searchLink>; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Feuk+L%22">Feuk L</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. lars.feuk@igp.uu.se.; SciLifeLab, Uppsala University, Uppsala, Sweden. lars.feuk@igp.uu.se.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 649-657. <i>Date of Electronic Publication: </i>2026 Feb 23.
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        Value: 10.1038/s41431-026-02039-4
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              Text: 2026 May
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