ARIEL

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 (Accumulation of Rare variants Integrated and Extended Locus-specific test) has been developed as a locus-wide regression-based collapsing approach that incorporates variant quality scores.

[Genome Research Limited]

Download

System requirements

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

Download ARIEL

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

Publications

  • 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

    PUBMED: 22441326; PMC: 3477640; DOI: 10.1159/000336982

Contact

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

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

* quick link - http://q.sanger.ac.uk/ariel