Article

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

2022-06-07

Abstract excerpt

<h4>Background</h4> For neurodevelopmental disorders (NDD), a molecular diagnosis is key for predicting outcome, treatment and genetic counseling. Currently, in about half of NDD cases, routine DNA-based testing fails to establish a genetic diagnosis. Transcriptome analysis (RNA-seq) improves the diagnostic yield for some groups of diseases, but has not been applied to NDD in a routine diagnostic setting. <h4>Meth...

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Literature Corpus work: f069f023-6d28-5888-8962-a373d76349b3
DOI: 10.1101/2022.06.05.22275956

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