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RNA Sequencing (RNA-seq)

Definition
AI-generated

RNA-seq measures transcript abundance and sequence by sequencing RNA (often cDNA) across the transcriptome, enabling gene expression quantification, isoform detection, and fusion discovery.

Synonyms

Why it matters in GWAS

RNA-seq links GWAS loci to genes and pathways through expression QTLs, tissue-specific effects, and transcriptome-wide association studies (TWAS), complementing DNA-only association results.

Example usage

"We integrated GWAS loci with GTEx RNA-seq eQTL data to prioritize candidate genes."

References

  • Ozsolak F, Milos PM. (2011). RNA sequencing: advances, challenges and opportunities. Nat Rev Genet.

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