Multi-Set Testing Strategies Show Good Behavior When Applied to Very Large Sets of Rare Variants

Rare variants: data types and analysis strategies

“…A pathway-based approach or multi-set testing for rare variant association test shows increase in statistical power when the subsets of genes such as exons, introns or gene windows contains fewer variants overall and may also improve potential disease-etiology elucidation (21). Copulabased Joint Analysis of Multiple Phenotypes (C-JAMP) is a single-marker association test, implemented as an R package, which uses a joint model of various phenotypes and variants or other covariates and is powerful for causal variants with large effect sizes (22).…”