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Rare Variant Aggregation Test

Definition
AI-generated

A rare variant aggregation test jointly analyzes many rare or low-frequency variants in a genetic region—typically a gene, exon set, or window—by collapsing or modeling them as a single multivariate signal.

Topics
GWAS
Synonyms
Collapsing method Aggregation test (rare variant)
Related
Adaptive Burden Test Burden Test Case-Control Study

Why it matters in GWAS

Single-SNP tests are underpowered for rare alleles; aggregation increases power when effects are shared across variants in a unit and is standard in exome/whole-genome association workflows alongside gene-based summaries.

Example usage

"The analysis uses Rare Variant Aggregation Test to quantify associations and compare alternative hypotheses."

Adaptive Burden Test Burden Test Case-Control Study Gene-Based Test Rare Variant SKAT SKAT-O Whole-Exome Sequencing (WES) Whole-Genome Sequencing (WGS)
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

  • Boutry S, Helaers R, et al. (2023). Rare variant association on unrelated individuals in case-control studies using aggregation tests: existing methods and current limitations. Brief Bioinform. https://doi.org/10.1093/bib/bbad412
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