Record added by Jurg Ott (the original Rockefeller list)
Accumulation of Rare variants Integrated and Extended Locus-specific test
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 has been developed as a locus-wide regression-based collapsing approach that incorporates variant quality scores.
Eleftheria Zeggini’s group (Wellcome Trust Sanger Institute)