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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Detalles Bibliográficos
Autores principales: Preeprem, Thanawadee, Gibson, Greg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
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

Internet

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

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