Conservation assessment of human splice site annotation based on a 470-genome alignment.

ABSTRACT: Despite many improvements over the years, the annotation of the human genome remains imperfect. The use of evolutionarily conserved sequences provides a strategy for selecting a high-confidence subset of the annotation. Using the latest whole genome alignment, we found that splice sites from protein-coding genes in the high-quality MANE annotation are consistently conserved across more than 350 species. We also studied splice sites from the RefSeq, GENCODE, and CHESS databases not present in MANE. In addition, we analyzed the completeness of the alignment with respect to the human genome annotations and described a method that would allow us to fix up to 50% of the missing alignments of the protein-coding exons. We trained a logistic regression classifier to distinguish between the conserv

SUBMITTER: Minkin I 

PROVIDER: S-EPMC10705407 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature