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PCR duplicate

Definition
AI-generated

PCR duplicates arise when library amplification copies the same original fragment multiple times; they appear as read pairs with identical or near-identical alignment coordinates.

Why it matters in GWAS

PCR duplicates can dominate coverage in low-input libraries, so duplicate marking is standard before variant calling and depth-based QC.

Example usage

"PCR duplicate rates were higher in historical samples, motivating stricter depth filters."

References

  • Picard toolkit: MarkDuplicates. Broad Institute.

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