Fusion transcript¶
Definition
AI-generated
A fusion transcript is a chimeric RNA joining exonic sequences from two or more separate genes or loci, often from rearrangement, read-through, or trans-splicing; RNA-seq fusion callers detect these as split reads, spanning pairs, or assembled junction contigs.
Why it matters in GWAS¶
While germline GWAS focuses on common variation, fusion transcripts matter in tumor and rare-disease genomics that intersect with association studies of susceptibility; structural variant and expression integration can nominate driver mechanisms.
Example usage¶
"The RNA-seq pipeline flagged a BCR–ABL1 fusion transcript supporting the structural variant call."
Related terms¶
References¶
- Haas BJ, et al. (2019). Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods. Genome Biol.
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