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Read Depth

Definition
AI-generated

Read depth is the number of sequencing reads covering a given genomic position.

Why it matters in GWAS

Low read depth increases genotype uncertainty, especially for heterozygotes and rare variants, while uneven depth can create systematic differences across samples or loci.

Example usage

"Variants with low read depth were excluded from the final call set before association testing."

References

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

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