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. 2017 Jun 22;13(6):e1005628.
doi: 10.1371/journal.pcbi.1005628. eCollection 2017 Jun.

High-confidence Assessment of Functional Impact of Human Mitochondrial Non-Synonymous Genome Variations by APOGEE

Free PMC article

High-confidence Assessment of Functional Impact of Human Mitochondrial Non-Synonymous Genome Variations by APOGEE

Stefano Castellana et al. PLoS Comput Biol. .
Free PMC article


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.

Conflict of interest statement

The authors have declared that no competing interests exist.


Fig 1
Fig 1. Meta-predictors performance comparisons by receiver operating characteristic curves.

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Grant support

The authors received no specific funding for this work.