Hidden Genetic Regulation of Human Complex Traits via Brain Isoforms.

ABSTRACT: Alternative splicing exists in most multi-exonic genes, and exploring these complex alternative splicing events and their resultant isoform expressions is essential. However, it has become conventional that RNA sequencing results have often been summarized into gene-level expression counts mainly due to the multiple ambiguous mapping of reads at highly similar regions. Transcript-level quantification and interpretation are often overlooked, and biological interpretations are often deduced based on combined transcript information at the gene level. Here, for the most variable tissue of alternative splicing, the brain, we estimate isoform expressions in 1,191 samples collected by the Genotype-Tissue Expression (GTEx) Consortium using a powerful method that we previously developed. We perform

SUBMITTER: Pan L 

PROVIDER: S-EPMC10260721 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature