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Coverage

Definition
AI-generated

Coverage is the amount of sequencing data overlapping a genomic position or region, often summarized as mean depth across the genome, exome, or targeted panel.

Why it matters in GWAS

Coverage strongly affects genotype accuracy, rare-variant sensitivity, and the quality of reference panels used for imputation or downstream association analyses.

Example usage

"The sequencing subset was generated at 30x mean coverage to support high-confidence variant discovery."

References

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

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