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Base quality

Definition
AI-generated

Base quality scores encode per-base error probabilities from the sequencer, usually as Phred-scaled Q scores in FASTQ.

Why it matters in GWAS

Systematic base-quality issues (for example by cycle) can bias allele and indel calls; recalibration steps are common in production pipelines.

Example usage

"Base quality recalibration was applied after duplicate marking and before variant discovery."

References

  • Ewing B, Green P. (1998). Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res.

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