APPRIS principal isoforms and MANE Select transcripts define reference splice variants.

ABSTRACT:

Motivation

Selecting the splice variant that best represents a coding gene is a crucial first step in many experimental analyses, and vital for mapping clinically relevant variants. This study compares the longest isoforms, MANE Select transcripts, APPRIS principal isoforms, and expression data, and aims to determine which method is best for selecting biological important reference splice variants for large-scale analyses.

Results

Proteomics analyses and human genetic variation data suggest that most coding genes have a single main protein isoform. We show that APPRIS principal isoforms and MANE Select transcripts best describe these main cellular isoforms, and find that using the longest splice variant as the representative is a poor strategy. Exons unique to the longest sp

SUBMITTER: Pozo F 

PROVIDER: S-EPMC9486585 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature