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A Combined Functional Annotation Score for Non-Synonymous Variants

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...

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Detalhes bibliográficos
Main Authors: Lopes, Margarida C., Joyce, Chris, Ritchie, Graham R.S., John, Sally L., Cunningham, Fiona, Asimit, Jennifer, Zeggini, Eleftheria
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390741/
https://ncbi.nlm.nih.gov/pubmed/22261837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000334984
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