Read Depth¶
Definition
AI-generated
Read depth is the number of sequencing reads covering a given genomic position.
Topics
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."
Related terms¶
References¶
- Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
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