McSplicer: a probabilistic model for estimating splice site usage from RNA-seq data.

ABSTRACT:

Motivation

Alternative splicing removes intronic sequences from pre-mRNAs in alternative ways to produce different forms (isoforms) of mature mRNA. The composition of expressed transcripts gives specific functionalities to cells in a particular condition or developmental stage. In addition, a large fraction of human disease mutations affect splicing and lead to aberrant mRNA and protein products. Current methods that interrogate the transcriptome based on RNA-seq either suffer from short read length when trying to infer full-length transcripts, or are restricted to predefined units of alternative splicing that they quantify from local read evidence.

Results

Instead of attempting to quantify individual outcomes of the splicing process such as local splicing events or full-len

SUBMITTER: Alqassem I 

PROVIDER: S-EPMC8337008 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature