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Singleton variant

Definition
AI-generated

A singleton variant is observed as a single copy of the alternate allele in the sequenced sample set (AC = 1 in the cohort).

Topics
Sequencing Data Analysis
Related
Allele count (AC) Doubleton variant Site frequency spectrum

Why it matters in GWAS

Singletons dominate the tail of the frequency spectrum; error control and family-based validation are critical for claims about individual ultra-rare alleles.

Example usage

"Each singleton variant was excluded from gene burden tests unless supported by replicate sequencing."

Allele count (AC) Doubleton variant Site frequency spectrum
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References

  • Tennessen JA, et al. (2012). Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science.
← Single-nucleus RNA sequencing (snRNA-seq) Singularity →

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