Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease.

ABSTRACT: Aberrant splicing underlies many human diseases, including cancer, cardiovascular diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait loci (sQTLs) has shown that genetic regulation of alternative splicing is widespread. However, identification of the corresponding isoform or protein products associated with disease-associated sQTLs is challenging with short-read RNA-seq, which cannot precisely characterize full-length transcript isoforms. Furthermore, contemporary sQTL interpretation often relies on reference transcript annotations, which are incomplete. Solutions to these issues may be found through integration of newly emerging long-read sequencing technologies. Long-read sequencing offers the capability to sequence full-length mRNA transcripts and, in

SUBMITTER: Castaldi PJ 

PROVIDER: S-EPMC9585682 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature