Bayesian reconstruction and differential testing of excised introns.

ABSTRACT:

Motivation

Characterizing the differential excision of introns is critical for understanding the functional complexity of a cell or tissue, from normal developmental processes to disease pathogenesis. Most transcript reconstruction methods infer full-length transcripts from high-throughput sequencing data. However, this is a challenging task due to incomplete annotations and the heterogeneous expression of transcripts across cell-types, tissues, and experimental conditions. Several recent methods circumvent these difficulties by considering local splicing events, but these methods lose transcript-level splicing information and may conflate similar, but distinct transcripts.

Results

In this work, we formalize a new transcript reconstruction problem that interpolates between t

SUBMITTER: Hosseini M 

PROVIDER: S-EPMC12721381 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature