CAROL

CAROL is a combined functional annotation score of non-synonymous coding variants.

A major challenge in interpreting whole-exome data is predicting which of the discovered variants are deleterious or neutral.

To address this question in silico, we have developed a score called Combined Annotation scoRing toOL (CAROL), which combines information from two bioinformatics tools: PolyPhen-2 and SIFT, in order to improve the prediction of the effect of non-synonymous coding variants. The combination of annotation tools can help improve automated prediction of whole-genome/exome non-synonymous variant functional consequences.

[Genome Research Limited]

Download

System requirements

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

Download CAROL

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

Publications

  • A combined functional annotation score for non-synonymous variants

    Margarida C. Lopes, Chris Joyce, Graham R. S. Ritchie, Sally L. John, Fiona Cunningham, Jennifer Asimit and Eleftheria Zeggini

    Human Heredity 

Contact

If you have any problems running CAROL, then please contact either: Margarida Lopes or Eleftheria Zeggini.

It is recommended that you contact the author of CAROL, Margarida Lopes regarding bugs or problems running the script.

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