Ribosome Profiling (Ribo-seq)¶
Definition
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Ribosome profiling (Ribo-seq) captures ribosome-protected mRNA fragments to map translated regions genome-wide at nucleotide resolution.
Topics
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."
Related terms¶
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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