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. |
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| 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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