Genome annotations matter: characterizing Ensembl hg38 annotations from 2014 to 2023.

ABSTRACT:

Background

An accurate genome annotation is essential in many contexts, including RNA sequencing studies. Annotations include known genes and isoforms, detailing their location (chromosome, start, and end) and coding sequence, among other important metadata.

Results

We characterized changes in human Ensembl annotations from 2014 to 2023 and the important gains in our biological understanding in recent years. While generally gene and isoform annotations increased (2014: 58,812 genes ; 2023: 62,710), some years dropped (e.g., 2016). A similar pattern exists for the gene and isoform biotypes; both 2015 (19,825) and 2017 (19,828) have fewer genes annotated as protein-coding than 2014 (19,953) and 2016 (19,961)- 2023 has the most (20,048). PCBP1-AS1 had the most annotated isoform

SUBMITTER: Page ML 

PROVIDER: S-EPMC12679773 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature