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Ultra-rare variant

Definition
AI-generated

An ultra-rare variant appears in only a handful of copies in a panel (sometimes singletons or doubletons in the cohort), often below fixed MAF thresholds.

Topics
Sequencing Data Analysis
Related
Rare Variant Singleton variant

Why it matters in GWAS

Ultra-rare alleles drive gene-burden discovery but are most sensitive to sequencing error and batch effects.

Example usage

"An ultra-rare variant was defined as AC ≤ 2 in the internal panel."

Rare Variant Singleton variant
Related-term network

Click any node to open that term page.

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

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