Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Genetic testing plays a crucial role in diagnosing neurodevelopmental disorders (NDD). Geneticists continuously explore new methods, such as genome sequencing (GS), to improve diagnostic accuracy. However, some genetic variations detected by GS are challenging to understand. To address this, we combined GS with RNA-Seq, a technique that provides extra information about how these variations affect genes. Our study demonstrated that this innovative approach significantly enhances the diagnosis of NDD, particularly in complex cases. By integrating advanced techniques like RNA-Seq and optical genome mapping, we may soon have more reliable diagnostic tools for NDD, benefiting patients and advancing genetic research in healthcare. (By Kevin Riquin, https://jmg.bmj.com/content/early/2023/07/26/jmg-2023-109263 )

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