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An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
BACKGROUND: Personal genome analysis is now being considered for evaluation of disease risk in healthy individuals, utilizing both rare and common variants. Multiple scores have been developed to predict the deleteriousness of amino acid substitutions, using information on the allele frequencies, le...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892026/ https://www.ncbi.nlm.nih.gov/pubmed/24365473 http://dx.doi.org/10.1186/1756-0381-6-24 |