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Sequencing by synthesis (SBS)

Definition
AI-generated

Illumina sequencing (sequencing by synthesis) uses reversible fluorescent terminators to build DNA reads on a flow cell, producing billions of short reads (typically tens to hundreds of bases) with high accuracy and throughput.

Topics
Sequencing and omics tech
Synonyms
Sequencing by synthesis (SBS)
Related
Paired-End Sequencing Read Depth Short-Read Sequencing

Why it matters in GWAS

Most large-scale GWAS array calibration, imputation, and WGS/WES cohorts rely on Illumina short-read data; understanding its strengths and limitations is central to interpreting GWAS pipelines and variant quality.

Example usage

"Sequencing by synthesis (SBS) data were integrated with association signals to refine biological interpretation of lead loci."

Paired-End Sequencing Read Depth Short-Read Sequencing Variant Calling
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Bentley DR, et al. (2008). Accurate whole human genome sequencing using reversible terminator chemistry. Nature.
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