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Low-Pass Sequencing

Definition
AI-generated

Low-pass sequencing is whole-genome sequencing performed at low average coverage, often below standard deep WGS, with genotypes later refined by imputation.

Why it matters in GWAS

Low-pass sequencing can be a cost-effective alternative to arrays for common-variant GWAS, especially when paired with strong reference panels and imputation methods.

Example usage

"The cohort used 4x low-pass sequencing followed by imputation to generate genome-wide dosages."

References

  • Li JH, et al. (2021). Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays. Genome Res.
  • Sun Q, Li Y. (2026). Advances in haplotype phasing and genotype imputation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00895-2

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