Freddie: annotation-independent detection and discovery of transcriptomic alternative splicing isoforms using long-read sequencing.

ABSTRACT: Alternative splicing (AS) is an important mechanism in the development of many cancers, as novel or aberrant AS patterns play an important role as an independent onco-driver. In addition, cancer-specific AS is potentially an effective target of personalized cancer therapeutics. However, detecting AS events remains a challenging task, especially if these AS events are novel. This is exacerbated by the fact that existing transcriptome annotation databases are far from being comprehensive, especially with regard to cancer-specific AS. Additionally, traditional sequencing technologies are severely limited by the short length of the generated reads, which rarely spans more than a single splice junction site. Given these challenges, transcriptomic long-read (LR) sequencing presents a promising p

SUBMITTER: Orabi B 

PROVIDER: S-EPMC9881145 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature