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Alternative Splicing

Definition
AI-generated

Alternative splicing is the production of multiple mature RNA isoforms from one gene through different exon inclusion, intron retention, or splice-site usage.

Topics
Molecular biology
Related
Alternative Polyadenylation Canonical Transcript Isoform

Why it matters in GWAS

Variants associated with expression or disease may act on specific isoforms (splicing QTLs) rather than overall gene abundance. Annotation and TWAS models that collapse genes to one transcript can miss splice-centric mechanisms unless multi-isoform or junction-level data are used.

Example usage

"RNA-seq revealed alternative splicing of the candidate gene, with exon skipping strongest in carriers of the risk haplotype."

Alternative Polyadenylation Canonical Transcript Isoform Expression Quantitative Trait Locus (eQTL) Genome Annotation RNA Sequencing (RNA-seq) Splice junction Splicing Quantitative Trait Locus (sQTL) Splice-Site Variant Splice Site Prediction Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • 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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