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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2012
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| Assuntos: | |
| Acceso en liña: | 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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