| Title: | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses |
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| Authors: | ID Demidov, German (Author)
ID Yaldiz, Burcu (Author)
ID García Peláez, José (Author)
ID De Boer, Elke (Author)
ID Schuermans, Nika (Author)
ID Peterlin, Borut (Research coworker), et al. |
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| Files: |  PDF - Presentation file, download (3,06 MB)
MD5: BDAF1CA6674E665FEFD9737AEDA12CCF
 URL - Source URL, visit https://doi.org/10.1038/s41525-024-00436-6
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| 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.Weapplied three CNV calling algorithms tomaximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European ReferenceNetworks, 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. |
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| Keywords: | rare diseases, reanalysis, copy number variant, disease-causing variants |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1-24 |
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| Numbering: | Vol. 9, [article no.] 49 |
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| PID: | 20.500.12556/DiRROS-28100  |
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| UDC: | 61:575 |
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| ISSN on article: | 2056-7944 |
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| DOI: | 10.1038/s41525-024-00436-6 |
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| COBISS.SI-ID: | 240092675 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 20. 6. 2025;
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| Publication date in DiRROS: | 10.03.2026 |
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| Views: | 66 |
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| Downloads: | 39 |
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