Skip to content

Short-Read Sequencing

Definition
AI-generated

Short-read sequencing generates relatively short DNA reads, typically tens to a few hundred bases long, at high throughput and low per-base cost. It is the dominant format for most large-scale WGS and WES studies.

Why it matters in GWAS

Short-read platforms are efficient for common-variant discovery and reference panel generation, but can be weaker for repetitive regions, structural variants, and long-range haplotype resolution.

Example usage

"Most participants were analyzed with short-read sequencing, while a smaller subset received long-read follow-up."

References

  • Metzker ML. (2010). Sequencing technologies: the next generation. Nat Rev Genet.

Last updated (UTC · Git history)