IFDlong: an isoform and fusion detector for accurate annotation and quantification of long-read RNA-seq data.

ABSTRACT: Advancements in long-read transcriptome sequencing (long-RNA-seq) technology have revolutionized the study of isoform diversity. These full-length transcripts enhance the detection of various transcriptome structural variations, including novel isoforms, alternative splicing events, and fusion transcripts. By shifting the open reading frame or altering gene expressions, studies have proved that these transcript alterations can serve as crucial biomarkers for disease diagnosis and therapeutic targets. In this project, we proposed IFDlong, a bioinformatics and biostatistics tool to detect isoform and fusion transcripts using bulk or single-cell long-RNA-seq data. Specifically, the software performed gene and isoform annotation for each long-read, defined novel isoforms, quantified isoform ex

SUBMITTER: Wang W 

PROVIDER: S-EPMC11118288 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature