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NCBI Reference Sequence (RefSeq)

Definition
AI-generated

RefSeq is NCBI’s curated, non-redundant set of reference sequences for genomes, transcripts, and proteins.

Topics
Post-GWAS
URL
https://www.ncbi.nlm.nih.gov/refseq/
Related
Canonical Transcript GENCODE Genome Annotation

Why it matters in GWAS

Lead variants are often reported with rs IDs and gene symbols; harmonizing with RefSeq transcript IDs matters for clinical reporting, dbSNP cross-references, and resources that use RefSeq-centric models. MANE selects one RefSeq and one Ensembl transcript per gene to reduce ambiguity.

Example usage

"We mapped GWAS genes to RefSeq NM accessions for consistency with the clinical variant database."

Canonical Transcript GENCODE Genome Annotation Genome-Wide Association Study (GWAS) MANE 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

  • Goldfarb T, et al. (2025). NCBI RefSeq: reference sequence standards through 25 years of curation and annotation. Nucleic Acids Res.
  • 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
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