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.
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If you need help or have any queries, please contact us using the details below.
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.