Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis.

ABSTRACT: Diagnostic analysis of mRNA is essential because altered splicing is a frequent cause of genetic diseases. High-throughput splicing studies remain difficult to implement in routine diagnostics. This is why SEALigHTS (splice and expression analyses by ligation and high throughput sequencing), a cost-effective and easy-to-implement technique designed for simultaneous analysis of RNA from multiple patients on a panel of genes, was developed using probes designed at exon extremities. After reverse transcription and probing on cDNA, neighboring probes are ligated and the number of ligations quantified by using unique molecular identifiers and sequencing. A panel covering 42 genes (ie, 2195 probes) involved in breast/ovarian and colorectal cancer predispositions was designed. After a training ph

SUBMITTER: Amiot J 

PROVIDER: S-EPMC12597563 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature