| Title: | Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability : an exception or a necessity? |
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| Authors: | ID Ilic, Nikola (Author)
ID Maric, Nina (Author)
ID Maver, Aleš (Author)
ID Armengol, Lluis (Author)
ID Kravljanac, Ružica (Author)
ID Cirkovic, Jana (Author)
ID Krstić, Jovana (Author)
ID Peterlin, Borut (Author), et al. |
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| Files: |  PDF - Presentation file, download (241,38 KB)
MD5: 6762D2C07B35DC671C09749C9EDC4A71
 URL - Source URL, visit https://doi.org/10.3390/genes15060789
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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: | This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics. |
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| Keywords: | developmental delay, intellectual disability, whole-exome sequencing, reverse phenotyping, neural network analysis |
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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. 1-13 |
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| Numbering: | Vol. 15, iss. 6, [article no.] 789 |
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| PID: | 20.500.12556/DiRROS-28092  |
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| UDC: | 61:575 |
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| ISSN on article: | 2073-4425 |
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| DOI: | 10.3390/genes15060789 |
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| COBISS.SI-ID: | 239948547 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 19. 6. 2025;
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| Publication date in DiRROS: | 10.03.2026 |
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| Views: | 79 |
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| Downloads: | 50 |
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