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Breadth of coverage

Definition
AI-generated

Breadth of coverage is the fraction of a target genome or region that meets a minimum depth threshold (for example the proportion of autosomes at ≥10×).

Why it matters in GWAS

Low breadth leaves systematic gaps in difficult regions and can bias rare-variant and CNV analyses; reporting breadth alongside mean depth clarifies how completely a genome is represented.

Example usage

"Breadth of coverage at ≥20× exceeded 95% of the callable genome in the QC-pass subset."

References

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

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