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StringTie

Definition
AI-generated

StringTie is a transcript assembler that reconstructs gene models and isoforms from spliced RNA-seq alignments using a network-flow formulation, and can quantify expression per transcript.

Why it matters in GWAS

Custom or tissue-specific transcriptomes built with StringTie can change which isoforms are quantified for eQTL mapping or TWAS training compared with static GENCODE catalogs. Reporting the assembly method and reference annotation version is necessary for reproducibility.

Example usage

"We requantified gene and isoform expression with StringTie on HISAT2 alignments before cis-eQTL mapping."

References

  • Pertea M, et al. (2015). StringTie enables improved reconstruction of a transcriptome from RNA-seq reads. Nat Biotechnol.
  • Kovaka S, et al. (2019). Transcriptome assembly from long-read RNA-seq alignments with StringTie2. Genome Biol.
  • 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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