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Targeted Sequencing

Definition
AI-generated

Targeted sequencing enriches and sequences a predefined set of genomic regions, such as candidate genes, custom panels, or loci of interest, rather than the whole exome or genome.

Why it matters in GWAS

It is useful for fine-mapping, validation, and rare-variant follow-up in selected regions when whole-genome sequencing would be unnecessarily expensive.

Example usage

"After the discovery GWAS, targeted sequencing was used to characterize rare coding variants in the implicated genes."

References

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.

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