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Homopolymer

Definition
AI-generated

A homopolymer is a run of identical bases (for example AAAA).

Why it matters in GWAS

Indel artifacts cluster in homopolymers; masks and local realignment reduce false positives in WGS call sets.

Example usage

"Indels in homopolymer runs were flagged for orthogonal validation."

References

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

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