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Private variant

Definition
AI-generated

A private variant is limited to a single family, population, or study sample set—often ultra-rare and absent from public frequency databases.

Topics
Sequencing Data Analysis
Related
Population Isolate Rare Variant

Why it matters in GWAS

Private alleles complicate replication and meta-analysis; WGS within isolates can enrich for private variation.

Example usage

"The private variant was limited to the founder isolate and absent from gnomAD."

Population Isolate Rare 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

  • Keinan A, Clark AG. (2012). Recent explosive human population growth has resulted in an excess of rare genetic variants. Science.
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