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Mapping quality (MAPQ)

Definition
AI-generated

Mapping quality (MAPQ) is a Phred-scaled score summarizing confidence that a read is placed at its reported location versus alternative mappings; MAPQ 0 often indicates multi-mapping ambiguity.

Why it matters in GWAS

Filtering on MAPQ reduces false calls in repeats and segmental duplications where misalignment can mimic variation.

Example usage

"Variants supported only by MAPQ <20 reads were flagged for manual review."

References

  • Li H, et al. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics.

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