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Blacklisted region

Definition
AI-generated

Blacklisted regions are high-artifact genomic intervals (often from ENCODE or custom tracks) excluded from analyses because alignments and variant calls are unreliable.

Why it matters in GWAS

Blacklist masks prevent spurious association signals driven by sequencing and mapping artifacts near satellites and telomeric repeats.

Example usage

"Blacklisted region intervals from ENCODE were excluded from peak calling and variant summaries."

References

  • Amemiya HM, et al. (2022). The ENCODE blacklist. Nat Commun.

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