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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

dc.rights.licenseopenen_US
dc.contributor.authorDEMIDOV, German
dc.contributor.authorLAURIE, Steven
dc.contributor.authorTORELLA, Annalaura
dc.contributor.authorPILUSO, Giulio
dc.contributor.authorSCALA, Marcello
dc.contributor.authorMORLEO, Manuela
dc.contributor.authorNIGRO, Vincenzo
dc.contributor.authorGRAESSNER, Holm
dc.contributor.authorBANKA, Siddharth
dc.contributor.authorMACAYA, Alfons
dc.contributor.authorPÉREZ-DUEÑAS, Belén
dc.contributor.authorJACKSON, Adam
dc.contributor.authorSTEVANIN, Giovanni
dc.contributor.authorDE SAINTE AGATHE, Jean-Madeleine
dc.contributor.authorHAVLOVICOVÁ, Markéta
dc.contributor.authorHORVATH, Rita
dc.contributor.authorPINELLI, Michele
dc.contributor.authorVAN OS, Nienke J. H.
dc.contributor.authorVAN DE WARRENBURG, Bart P. C.
dc.contributor.authorDENOMMÉ-PICHON, Anne-Sophie
dc.contributor.authorSAVARESE, Marco
dc.contributor.authorJOHARI, Mridul
dc.contributor.authorDALLAPICCOLA, Bruno
dc.contributor.authorTARTAGLIA, Marco
dc.contributor.authorPAULY, Martje G.
dc.contributor.authorSOMMER, Anna Katharina
dc.contributor.authorHAACK, Tobias B.
dc.contributor.authorTÖPF, Ana
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDIDIER, Lacombe
dc.contributor.authorFALLERINI, Chiara
dc.contributor.authorRENIERI, Alessandra
dc.contributor.authorCHINNERY, Patrick F.
dc.contributor.authorNATERA-DE BENITO, Daniel
dc.contributor.authorNASCIMENTO, Andres
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurélien
dc.contributor.authorMUNELL, Francina
dc.contributor.authorMARCÉ-GRAU, Anna
dc.contributor.authorRABAH, Ben Yaou
dc.contributor.authorBONNE, Gisèle
dc.contributor.authorVAN DE VONDEL, Liedewei
dc.contributor.authorLOHMANN, Katja
dc.contributor.authorOSSOWSKI, Stephan
dc.date.accessioned2025-07-15T11:47:50Z
dc.date.available2025-07-15T11:47:50Z
dc.date.issued2024-08
dc.identifier.issn1018-4813en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/207330
dc.description.abstractEnStructural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines and clinical decision support systems for exome sequencing (ES) tend to focus on small alterations such as single nucleotide variants (SNVs) and insertions-deletions shorter than 50 base pairs (indels). Additionally, detection and interpretation of large copy-number variants (CNVs) are frequently performed. However, detection of other types of SVs in ES data is hampered by the difficulty of identifying breakpoints in off-target (intergenic or intronic) regions, which makes robust identification of SVs challenging. In this paper, we demonstrate the utility of SV calling in ES resulting in a diagnostic yield of 0.4% (23 out of 5825 probands) for a large cohort of unsolved patients collected by the Solve-RD consortium. Remarkably, 8 out of 23 pathogenic SV were not found by comprehensive read-depth-based CNV analysis, resulting in a 0.13% increased diagnostic value. © The Author(s) 2024.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enGenetics research
dc.subject.enData processing
dc.title.enStructural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
dc.title.alternativeEur J Hum Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41431-024-01637-4en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
bordeaux.journalEuropean Journal of Human Geneticsen_US
bordeaux.page998 – 1004en_US
bordeaux.volume32en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue8en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-05163100
hal.version1
hal.date.transferred2025-07-15T11:47:56Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccCC BYen_US
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