Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.

ABSTRACT:

Background

RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing and aberrant gene expression, improving the interpretation of variants of unknown significance (VUSs), and provides the opportunity to scan the transcriptome for aberrant splicing and expression in relevant genes that may be the cause of a patient's phenotype. This work aims to investigate the feasibility of generating new diagnostic candidates in patients without a previously reported VUS using an RNA-seq-centric approach.

Methods

We systematically assessed the transcriptomic profiles of 86 patients with suspected Mendelian disorders, 38 of whom had no candid

SUBMITTER: Jaramillo Oquendo C 

PROVIDER: S-EPMC11382415 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature