Klinický benefit celoexomového sekvenování pro detekci vzácných genetických variant u dětských pacientů s neurovývojovými poruchami a vzácnými onemocněními
| Title in English | The clinical benefit of whole-exome sequencing for the detection of rare genetic variations in paediatric neurodevelopmental disorders and rare diseases |
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| Year of publication | 2022 |
| Type | Appeared in Conference without Proceedings |
| MU Faculty or unit | |
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| Description | Due to its diagnostic yield of 30-50% the Whole-exome sequencing (WES) represents an effective tool for the elucidation of molecular basis of neurodevelopmental disorders (NDDs). We present our current experience of WES analyses in 50 families of paediatirc patients with NDDs using commercially avaiable kit Human Core Exome (Twist Biosciences) and Illumina NovaSeq 6000. By means of an effective bioinformatics pipeline and variant filtering we identified a causative genetic variation in 41.5% (22/53) paediatric patients with NDDs and rare diseases. The diagnostic benefit of "trio-based" WES due to the detection of causative variants of variable ranges is documented by a case of a girl with Bloom syndrome with an additional genetic variations. Their identification specified her molecular diagnosis in detail and improved the quality of specialized multidisciplinary medical care. Our results clearly prove the clinical benefit of "trio-based" WES in the molecular diagnostics of NDDs and rare diseases. Supported by the Ministry of Health, grant nr. NU20-07-00145. |
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