High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.
PLoS Comput Biol
; 13(6): e1005628, 2017 Jun.
Article
en En
| MEDLINE
| ID: mdl-28640805
ABSTRACT
24,189 are all the possible non-synonymous amino acid changes potentially affecting the human mitochondrial DNA. Only a tiny subset was functionally evaluated with certainty so far, while the pathogenicity of the vast majority was only assessed in-silico by software predictors. Since these tools proved to be rather incongruent, we have designed and implemented APOGEE, a machine-learning algorithm that outperforms all existing prediction methods in estimating the harmfulness of mitochondrial non-synonymous genome variations. We provide a detailed description of the underlying algorithm, of the selected and manually curated training and test sets of variants, as well as of its classification ability.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Algoritmos
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Análisis Mutacional de ADN
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Mapeo Cromosómico
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Genoma Mitocondrial
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
PLoS Comput Biol
Asunto de la revista:
BIOLOGIA
/
INFORMATICA MEDICA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Italia