Systematic evaluation of isoform function in literature reports of alternative splicing.

ABSTRACT:

Background

Although most genes in mammalian genomes have multiple isoforms, an ongoing debate is whether these isoforms are all functional as well as the extent to which they increase the functional repertoire of the genome. To ground this debate in data, it would be helpful to have a corpus of experimentally-verified cases of genes which have functionally distinct splice isoforms (FDSIs).

Results

We established a curation framework for evaluating experimental evidence of FDSIs, and analyzed over 700 human and mouse genes, strongly biased towards genes that are prominent in the alternative splicing literature. Despite this bias, we found experimental evidence meeting the classical definition for functionally distinct isoforms for ~ 5% of the curated genes. If we relax our cr

SUBMITTER: Bhuiyan SA 

PROVIDER: S-EPMC6114036 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature