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Doubleton variant

Definition
AI-generated

A doubleton variant appears exactly twice among counted alleles in the cohort (AC = 2), often two heterozygotes or one homozygote.

Topics
Sequencing Data Analysis
Related
Allele count (AC) Singleton variant

Why it matters in GWAS

Doubletons sit just above singletons in the SFS and are used in sensitivity analyses of rare-variant filters.

Example usage

"We tabulated each doubleton variant separately to assess sensitivity to AC thresholds."

Allele count (AC) Singleton variant
Related-term network

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Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Tennessen JA, et al. (2012). Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science.
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