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Genome Annotation

Definition
AI-generated

Genome annotation is the process of labeling a reference genome assembly with biological features—genes, transcripts, splice structures, coding sequences, and often noncoding elements—using computational prediction, transcript and protein evidence, and curation.

Topics
Core genetics
Synonyms
Gene annotation (often used interchangeably in eukaryotes)
Related
Alternative Splicing Canonical Transcript GENCODE

Why it matters in GWAS

Association results are interpreted against a specific assembly and gene build; mismatches between studies (or between GWAS, eQTL, and TWAS resources) often trace back to annotation or transcript choice. Understanding annotation limits (e.g. unresolved isoforms, lncRNAs) frames how confidently a variant can be tied to a gene.

Example usage

"At this locus, Genome Annotation annotations were used to prioritize plausible biological mechanisms."

Alternative Splicing Canonical Transcript GENCODE Genome-Wide Association Study (GWAS) MANE RefSeq Transcript Assembly 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

  • 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
← Genome Genome assembly →

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