Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases - PubMed
5 hours ago
- #genetic diagnosis
- #RNA-seq
- #liver diseases
- Liver transcriptome sequencing enhances genetic diagnosis by detecting aberrant splicing and allele-specific expression.
- RNA sequencing was performed on 147 patients with prior DNA sequencing, aiding diagnosis in 56 cases.
- Among 91 undiagnosed patients, RNA sequencing established a diagnosis in 17 (18.68%).
- In patients with indicative phenotypes or prioritized variants, RNA sequencing helped diagnose 15 out of 33 (45.45%).
- Key benefits of RNA sequencing include detection of cryptic splicing sites and allele-specific expression.
- RNA sequencing is an essential complement to DNA sequencing for genetic liver disease diagnosis.