Skip to content

Ensembl

Definition
AI-generated

Ensembl is a genome browser and annotation system from EMBL-EBI that provides gene models, sequence, variants, and comparative genomics for vertebrates and other species.

Topics
Post-GWAS
URL
https://www.ensembl.org/
Related
GENCODE Genome Annotation Genome-Wide Association Study (GWAS)

Why it matters in GWAS

Most large-scale variant annotation in GWAS follow-up uses VEP or compatible consequence ontologies keyed to Ensembl transcripts. Choosing Ensembl versus RefSeq labels affects how intronic and splice-region variants are described and merged across studies.

Example usage

"We ran Ensembl VEP on GRCh38 with default Ensembl transcripts to classify missense and splice-region SNPs at fine-mapped loci."

GENCODE Genome Annotation Genome-Wide Association Study (GWAS) MANE RefSeq Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Dyer SC, et al. (2025). Ensembl 2025. Nucleic Acids Res.
  • McLaren W, et al. (2016). The Ensembl Variant Effect Predictor. Genome Biol.
  • 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
← Enhancer Eocene epoch →

Last updated (UTC · Git history)