Inovace exomového sekvenování v molekulární diagnostice dětských neurovývojových onemocnění
| Title in English | Inovation of exome sequencing in the molecular diagnostics of paediatric neurodevelopmental disorders |
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| Year of publication | 2023 |
| Type | Appeared in Conference without Proceedings |
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| Description | Due to its diagnostic yield 30-50%, exome sequencing represents a considerable tool in the molecular diagnostics of paediatric neurodevelopmental disorders (NDDs). We present our experience with a novel approach of "trio-like" analyses, which lies in the pooling of parental samples, novel setting of variant prioritization and verification analyses. The novel approach will be critically compared with the standard model of trio-based analysis from the view of the diagnostic yield, data quality and variant prioritization and its modification. Then the cost and time effort will be evaluated. We will outline the pros and cons of the novel approach and their possible solution. Our pilot outputs and approximately 50% diagnostic yield indicate a potential of clinical utility of "trio-like" analyses. Supported by Ministry of Health of the Czech Republic, grant nr. NU20-07-00145 and MZČR-RVO, FNBr 65269705. |
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