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Low-frequency variant

Definition
AI-generated

A low-frequency variant has intermediate population allele frequency—often between rare and common cutoffs depending on study (for example 1–5%).

Topics
Sequencing Data Analysis
Related
Allele frequency Minor Allele Frequency (MAF) Rare Variant

Why it matters in GWAS

Low-frequency variants need larger samples than common SNPs and careful frequency-aware tests; WGS improves discovery versus arrays alone.

Example usage

"We defined a low-frequency variant as 1% ≤ MAF < 5% in the joint call set."

Allele frequency Minor Allele Frequency (MAF) Rare Variant
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References

  • Bomba L, et al. (2017). The impact of rare variation on complex traits. Cell.
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