Article

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

2025-11-19

Abstract excerpt

Exome and genome sequencing leave >50% of dystonia-affected individuals without a molecular diagnosis. Where DNA-oriented approaches remain insufficient, integrating multiomics methods and bioinformatics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA-seq) from a collection of 167 fibroblast samples from individuals affected with dystonic diseases. We leveraged an RNA-seq...

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Literature Corpus work: 7628b865-cc24-5078-84c3-3a693c399c09
DOI: 10.1101/2025.11.14.25339254

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