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Properly paired reads

Definition
AI-generated

Properly paired reads are a mate pair whose orientations and separation fall within expected insert-size limits for the library, as encoded in SAM flags after alignment.

Why it matters in GWAS

Discordant pairs motivate SV discovery; loss of proper pairing can signal contamination, degradation, or library failure.

Example usage

"The fraction of properly paired reads fell below 90% in two samples that were excluded."

References

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

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