Amelia

Record added by Jurg Ott (the original Rockefeller list)

Allele Matching Empirical Locus-specific Integrated Association test

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 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.

Eleftheria Zeggini’s group (Wellcome Trust Sanger Institute)

http://www.sanger.ac.uk/resources/software/amelia/

R

UNIX, Linux