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Definition
AI-generated

A transcript is an RNA molecule produced from a locus, including precursor and mature forms; in genomics usage it often refers to a defined RNA isoform or annotated RNA feature (for example in GENCODE or RefSeq).

Why it matters in GWAS

Variant interpretation and eQTL/sQTL models are transcript-aware when they distinguish isoforms, junctions, and UTR usage—otherwise tissue-specific or splice-driven effects at a locus can be misattributed to whole-gene expression alone.

Example usage

"The risk haplotype was associated with a shorter 3′ UTR transcript isoform rather than total gene counts."

References

  • GTEx Consortium. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science.

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