Skip to content

Matched Annotation from NCBI and EMBL-EBI (MANE)

Definition
AI-generated

MANE is a collaboration between NCBI and EMBL-EBI that selects a single high-quality transcript pair—a RefSeq “Select” and a matching Ensembl transcript—for each human protein-coding gene where possible.

Topics
Synonyms

Why it matters in GWAS

Gene- and transcript-level tests, TWAS models, and reporting often implicitly pick one isoform; MANE gives a standardized choice that aligns RefSeq and Ensembl IDs. Using MANE (or explicitly stating the transcript set) improves comparability across studies and clinical translation.

Example usage

"We reported variant consequences on MANE Select transcripts to match both RefSeq-based clinical resources and Ensembl-based GWAS annotation."

References

  • Morales J, et al. (2022). A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. Nature.
  • Ji HJ, Pertea M, Salzberg SL. (2026). Annotating genomes at increased scale and resolution. Nat Rev Genet. https://doi.org/10.1038/s41576-026-00937-3

Last updated (UTC · Git history)