Publication: Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
dc.contributor.coauthor | Demidov,G. | |
dc.contributor.coauthor | Yaldiz,B. | |
dc.contributor.coauthor | Garcia-Pelaez,J. | |
dc.contributor.coauthor | de Boer,E. | |
dc.contributor.coauthor | Schuermans,N. | |
dc.contributor.coauthor | Van de Vondel,L. | |
dc.contributor.coauthor | Paramonov,I. | |
dc.contributor.coauthor | Johansson,L.F. | |
dc.contributor.coauthor | Musacchia,F. | |
dc.contributor.coauthor | Benetti,E. | |
dc.contributor.coauthor | Bullich,G. | |
dc.contributor.coauthor | Sablauskas,K. | |
dc.contributor.coauthor | Beltran,S. | |
dc.contributor.coauthor | Gilissen,C. | |
dc.contributor.coauthor | Hoischen,A. | |
dc.contributor.coauthor | Ossowski,S. | |
dc.contributor.coauthor | de Voer,R. | |
dc.contributor.coauthor | Lohmann,K. | |
dc.contributor.coauthor | Oliveira,C. | |
dc.contributor.coauthor | Topf,A. | |
dc.contributor.coauthor | Vissers,L.E.L.M. | |
dc.contributor.coauthor | Zguro,K. | |
dc.contributor.coauthor | Zara,F. | |
dc.contributor.coauthor | Zaganas,I. | |
dc.contributor.coauthor | Yepez,V.A. | |
dc.contributor.coauthor | Wirth,B. | |
dc.contributor.coauthor | Webb,D. | |
dc.contributor.coauthor | Verdin,H. | |
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dc.contributor.coauthor | Lauerer-Braun,R. | |
dc.contributor.coauthor | Kegele,J. | |
dc.contributor.coauthor | Boßelmann,C. | |
dc.contributor.coauthor | Lerche,H. | |
dc.contributor.coauthor | Hengel,H. | |
dc.contributor.coauthor | Schöls,L. | |
dc.contributor.coauthor | Heutink,P. | |
dc.contributor.coauthor | Beijer,D. | |
dc.contributor.coauthor | Traschütz,A. | |
dc.contributor.coauthor | Wilke,C. | |
dc.contributor.coauthor | Synofzik,M. | |
dc.contributor.coauthor | Kolen,I. | |
dc.contributor.coauthor | Resch,B. | |
dc.contributor.coauthor | Kellner,M. | |
dc.contributor.coauthor | Xu,J. | |
dc.contributor.coauthor | Schüle,R. | |
dc.contributor.coauthor | Schulze-Hentrich,J.M. | |
dc.contributor.coauthor | Schütz,L. | |
dc.contributor.coauthor | Park,J. | |
dc.contributor.coauthor | Sturm,M. | |
dc.contributor.coauthor | Ellwanger,K. | |
dc.contributor.coauthor | Zurek,B. | |
dc.contributor.coauthor | Graessner,H. | |
dc.contributor.coauthor | Haack,T.B. | |
dc.contributor.coauthor | Riess,O. | |
dc.contributor.coauthor | Laurie,S. | |
dc.contributor.coauthor | Solve-RD Consortium. | |
dc.contributor.department | NDAL (Neurodegeneration Research Laboratory) | |
dc.contributor.department | KUTTAM (Koç University Research Center for Translational Medicine) | |
dc.contributor.department | KUH (Koç University Hospital) | |
dc.contributor.department | School of Medicine | |
dc.contributor.kuauthor | Başak, Ayşe Nazlı | |
dc.contributor.schoolcollegeinstitute | KUH (KOÇ UNIVERSITY HOSPITAL) | |
dc.contributor.schoolcollegeinstitute | Laboratory | |
dc.contributor.schoolcollegeinstitute | Research Center | |
dc.contributor.schoolcollegeinstitute | SCHOOL OF MEDICINE | |
dc.date.accessioned | 2025-03-06T20:59:49Z | |
dc.date.issued | 2024 | |
dc.description.abstract | We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. | |
dc.description.indexedby | Scopus | |
dc.description.indexedby | PubMed | |
dc.description.publisherscope | International | |
dc.description.sponsoredbyTubitakEu | N/A | |
dc.identifier.doi | 10.1038/s41525-024-00436-6 | |
dc.identifier.issn | 2056-7944 | |
dc.identifier.issue | 1 | |
dc.identifier.quartile | N/A | |
dc.identifier.scopus | 2-s2.0-85207830154 | |
dc.identifier.uri | https://doi.org/10.1038/s41525-024-00436-6 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14288/27781 | |
dc.identifier.volume | 9 | |
dc.keywords | Copy number variants (CNVs) | |
dc.keywords | Exome sequencing (ES) | |
dc.keywords | Rare disease diagnosis | |
dc.keywords | Genetic reanalysis | |
dc.keywords | Genomic data | |
dc.keywords | Unsolved cases | |
dc.keywords | Precision medicine | |
dc.keywords | Molecular genetics | |
dc.keywords | Diagnostic yield | |
dc.keywords | Clinical genomics | |
dc.language.iso | eng | |
dc.publisher | Nature Research | |
dc.relation.ispartof | npj Genomic Medicine | |
dc.subject | Education and educational research | |
dc.subject | Neurosciences | |
dc.subject | Psychology, experimental | |
dc.title | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | |
dc.type | Journal Article | |
dspace.entity.type | Publication | |
local.contributor.kuauthor | Başak, Ayşe Nazlı | |
local.publication.orgunit1 | SCHOOL OF MEDICINE | |
local.publication.orgunit1 | Laboratory | |
local.publication.orgunit1 | KUH (KOÇ UNIVERSITY HOSPITAL) | |
local.publication.orgunit1 | Research Center | |
local.publication.orgunit2 | KUTTAM (Koç University Research Center for Translational Medicine) | |
local.publication.orgunit2 | KUH (Koç University Hospital) | |
local.publication.orgunit2 | NDAL (Neurodegeneration Research Laboratory) | |
local.publication.orgunit2 | School of Medicine | |
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