ARIEL explores the effects of rare variants within complex traits through locus-based analysis.
There is increasing evidence that rare variants play a role in some complex traits, but their analysis is not straightforward. Locus-based tests become necessary due to low power in rare variant single-point association analyses. In addition, variant quality scores are available for sequencing data, but are rarely taken into account.
To enable this analysis, ARIEL (Accumulation of Rare variants Integrated and Extended Locus-specific test) has been developed as a locus-wide regression-based collapsing approach that incorporates variant quality scores.