Rare-Variant Association Studies

Summary

Rare-variant association studies (RVAS) evaluate the aggregated contribution of low-frequency and rare genetic variants (typically MAF < 0.1% or MAF < 1%) to phenotypic variation. Common frameworks collapse variants within a gene or genomic region into burden scores or kernel tests to overcome severe single-variant statistical power constraints.

Overview

Stub note for Rare-Variant Association Studies (RVAS), created because it is referenced across multiple vault articles. Expand when detailed sources are ingested.