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Transcript quantification

Definition
AI-generated

Transcript quantification estimates abundances for transcripts or genes from RNA-seq reads—via alignment-based assignment, pseudoalignment to a transcriptome, or assembly-informed models—producing counts or TPM-like scales for downstream differential expression analysis and eQTL inputs.

Why it matters in GWAS

Reliable expression and isoform abundances feed eQTL/sQTL resources, TWAS, and colocalization; quantification choices (reference annotation, bias correction, multi-mapping) affect which signals replicate across studies.

Example usage

"Gene and transcript quantification TPMs from pseudoalignment were used as phenotypes for tensor-QTL mapping."

References

  • Bray NL, Pimentel H, Melsted P, Pachter L. (2016). Near-optimal probabilistic RNA-seq quantification. Nat Biotechnol.

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