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Long-Read RNA-seq

Definition
AI-generated

Long-read RNA-seq uses sequencing reads that often span full-length or near-full-length cDNA molecules (e.g. from PacBio Iso-Seq or Oxford Nanopore), improving resolution of isoforms, complex splice patterns, and fusion transcripts compared with short-read RNA-seq alone.

Topics
Sequencing and omics tech
Related
Alternative Splicing Long-Read Sequencing Nanopore Sequencing

Why it matters in GWAS

When validating causal genes or splicing mechanisms at a locus, long-read data can resolve isoform structure that short reads ambiguously assign. Single-cell long-read methods are emerging for cell-type–specific isoform context, though coverage and cost still limit routine GWAS follow-up.

Example usage

"We used long-read RNA-seq in iPSC-derived neurons to confirm intron retention at the GWAS candidate gene."

Alternative Splicing Long-Read Sequencing Nanopore Sequencing Single-molecule real-time sequencing (SMRT) RNA Sequencing (RNA-seq) Transcript Assembly
Related-term network

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References

  • Pardo-Palacios FJ, et al. (2024). Systematic assessment of long-read RNA-seq methods for transcript identification and quantification. Nat Methods.
  • 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
← Long non-coding RNA (lncRNA) Long-Read Sequencing →

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