Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases.

Liver tissue RNA sequencing in 147 patients with genetic liver disease supported diagnoses in 56 cases from DNA-only results and added diagnoses in 17 previously undiagnosed patients (18.68%).

• Why it matters: DNA sequencing can leave variants hard to interpret, so diagnostic gaps persist in genetic liver diseases; RNA readouts may clarify functional impact.
• What they did: The team performed liver RNA-seq on 147 patients with prior DNA sequencing, assessing aberrant gene expression, splicing, allele-specific expression, transcript similarity, and mosaic variants.
• The result: RNA-seq established diagnoses in 17/91 previously undiagnosed patients and in 15/33 with indicative phenotypes or prioritized variants, mainly via aberrant splicing and allele-specific expression, including ±50 bp cryptic splicing hotspots and allele-specific expression patterns.

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