Short-Read Sequencing¶
Definition
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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.
Topics
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."
Related terms¶
References¶
- Metzker ML. (2010). Sequencing technologies: the next generation. Nat Rev Genet.
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