Publications by authors named "Atefeh Bagherieh"
Article Synopsis
- Researchers analyzed the whole transcriptome of 40 families with Mendelian skin disorders to identify mutations that standard DNA methods might miss, particularly those in the exons and deep introns.
- RNA-seq was successful in detecting pathogenic mutations in 88% of the families studied, allowing for better prioritization of variants and identification of the responsible genes.
- The study proposes "clinical RNA-seq" as a first-line method for detecting mutations in inherited conditions, notably in consanguineous families, assuming appropriate tissues are available for testing.
