Abstract
Presentation Description :
In this presentation we will discuss the reasearch potential and clinical utility of Oxford Nanopore Technologies (ONT) based assays for sequencing of tageted aplicons from transcripts of genes with restricted expression patterns. We will discuss the design of the assay, highlight the ability of the method to detect low level transcripts and chracterise complex splice alterations due to cryptic splice variants found within exons, at intron/exon junctions and deep intonic variants. We will demonstrate how variant/transcript phasing is possible and use selected examples in genes including TULP1, USH2A, PROM1, CEP290 to illustrate the results.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.