SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.

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Title: SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.
Authors: Elrick H; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., Sauer CM; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., Espejo Valle-Inclan J; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., Trevers K; Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK.; Research Department of Pathology, University College London Cancer Institute, London, UK., Tanguy M; Genomics England, London, UK., Zumalave S; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., De Noon S; Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK.; Research Department of Pathology, University College London Cancer Institute, London, UK., Muyas F; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., Cascão R; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Afonso A; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Rust AG; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK., Amary F; Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK.; Research Department of Pathology, University College London Cancer Institute, London, UK., Tirabosco R; Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK.; Research Department of Pathology, University College London Cancer Institute, London, UK., Giess A; Genomics England, London, UK., Freeman T; Genomics England, London, UK., Sosinsky A; Genomics England, London, UK., Piculell K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Faria CC; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Department of Neurosurgery, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Elgar G; Genomics England, London, UK., Flanagan AM; Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK. a.flanagan@ucl.ac.uk.; Research Department of Pathology, University College London Cancer Institute, London, UK. a.flanagan@ucl.ac.uk., Cortes-Ciriano I; European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. icortes@ebi.ac.uk.; Wellcome Sanger Institute, Cambridge, UK. icortes@ebi.ac.uk.
Source: Nature methods [Nat Methods] 2025 Jul; Vol. 22 (7), pp. 1436-1446. Date of Electronic Publication: 2025 May 28.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1548-7105
DOI:10.1038/s41592-025-02708-0