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.

[Genome Research Limited]


System requirements

The software should run on any UNIX or GNU/Linux system.

Download AMELIA

After downloading the files, please read the AMELIA_README.txt file to set up and run the files.


  • ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data.

    Asimit JL, Day-Williams AG, Morris AP and Zeggini E

    Human heredity 2012;73;2;84-94


If you have any problems running AMELIA, then please contact either: Jennifer Asimit or Eleftheria Zeggini.

It is recommended that you contact the author of AMELIA, Jennifer Asimit regarding bugs or problems running the script.

* quick link -