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Splicing Quantitative Trait Locus (sQTL)

Definition
AI-generated

A splicing quantitative trait locus (sQTL) is a genetic variant associated with isoform usage, exon inclusion, or junction counts—usually quantified from RNA-seq split reads or splicing arrays—rather than (or in addition to) total gene expression.

Topics
Core genetics
Synonyms
sQTL
Related
Alternative Splicing Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq)

Why it matters in GWAS

Some loci act through altered splicing; sQTL evidence can explain associations missed by gene-level eQTL summaries and motivates junction-level transcriptomics in follow-up.

Example usage

"The credible SNP was a strong cis-sQTL for exon skipping in liver RNA-seq."

Alternative Splicing Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq) Transcript Assembly Transcriptome Transcriptomics
Related-term network

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References

  • Li YI, et al. (2016). RNA splicing is a primary link between genetic variation and disease. Science.
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