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Ribosome Profiling (Ribo-seq)

Definition
AI-generated

Ribosome profiling (Ribo-seq) captures ribosome-protected mRNA fragments to map translated regions genome-wide at nucleotide resolution.

Why it matters in GWAS

Most GWAS interpretation focuses on coding change or regulation of canonical CDS; Ribo-seq evidence can support or challenge whether a region is translated, informing prioritization of upstream ORFs, small ORFs, or disputed gene models. It is secondary to eQTL and splicing data in typical association follow-up.

Example usage

"Ribo-seq in the relevant tissue showed translation across the alternate start codon implicated by the association interval."

References

  • Ingolia NT, et al. (2009). Genome-wide analysis in vivo of translation with nucleotide resolution using ribosome profiling. Science.
  • 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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