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.

Download and Installation

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


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


Sanger Contributors

Asimit, Jennifer

Dr Jennifer Asimit
MRC Methodology Research Fellow - Statistical Geneticist


  • 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

Tool Type