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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...

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מידע ביבליוגרפי
Main Authors: Preeprem, Thanawadee, Gibson, Greg
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2013
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3892026/
https://ncbi.nlm.nih.gov/pubmed/24365473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0381-6-24
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