AMELIA is a program that employs allele matching to analyse the effects of rare variants within a specific locus.
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, AMELIA (Allele Matching Empirical Locus-specific Integrated Association test) has been developed as an allele-matching approach that is robust to the presence of both directions of effect for variants within the locus analysed. An allele-matching approach for the analysis of imputed data is also available.