Detecting haplotype-specific transcript variation in long reads with FLAIR2.

ABSTRACT:

Background

RNA-seq has brought forth significant discoveries regarding aberrations in RNA processing, implicating these RNA variants in a variety of diseases. Aberrant splicing and single nucleotide variants (SNVs) in RNA have been demonstrated to alter transcript stability, localization, and function. In particular, the upregulation of ADAR, an enzyme that mediates adenosine-to-inosine editing, has been previously linked to an increase in the invasiveness of lung adenocarcinoma cells and associated with splicing regulation. Despite the functional importance of studying splicing and SNVs, the use of short-read RNA-seq has limited the community's ability to interrogate both forms of RNA variation simultaneously.

Results

We employ long-read sequencing technology to obtain full

SUBMITTER: Tang AD 

PROVIDER: S-EPMC11218413 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature