Article
A combined functional annotation score for non-synonymous variants.
Human heredity - 1 Jan 2012
Lopes Margarida C, Joyce Chris, Ritchie Graham R S, John Sally L, Cunningham Fiona, Asimit Jennifer, Zeggini Eleftheria
Abstract excerpt
AIMS: Next-generation sequencing has opened the possibility of large-scale sequence-based disease association studies. 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 2 bioinformatics tools:...
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