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 in RNA have been demonstrated to alter transcript stability, localization, and function. In particular, the upregulation of ADAR, an enzyme which mediates adenosine-to-inosine editing, has been previously linked to an increase in the invasiveness of lung ADC cells and associated with splicing regulation. Despite the functional importance of studying splicing and SNVs, short read RNA-Seq has limited the community's ability to interrogate both forms of RNA variation simultaneously.

Results

We employed long-read technology to obtain full-length transcript sequences, elucida

SUBMITTER: Tang AD 

PROVIDER: S-EPMC10312636 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature