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Whole-Exome Sequencing (WES)

Definition
AI-generated

Whole-exome sequencing targets protein-coding exons and adjacent splice regions, enriching coding sequence for variant calling at lower cost than WGS.

Topics
Sequencing and omics tech
Related
Coverage Paired-End Sequencing Read Depth

Why it matters in GWAS

WES is common for Mendelian disorders and gene-burden tests; for common-variant GWAS, arrays plus imputation often remain efficient unless coding rare variation is the focus.

Example usage

"Quality-controlled Whole-Exome Sequencing (WES) data were used to prioritize robust loci and downstream functional follow-up."

Coverage Paired-End Sequencing Read Depth Short-Read Sequencing Targeted Sequencing Variant Annotation Variant Calling Whole-Genome Sequencing (WGS)
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References

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
← West Asian ancestry Whole-genome bisulfite sequencing (WGBS) →

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