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- Title
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.
- Authors
Castellana, Stefano; Fusilli, Caterina; Mazzoccoli, Gianluigi; Biagini, Tommaso; Capocefalo, Daniele; Carella, Massimo; Vescovi, Angelo Luigi; Mazza, Tommaso
- 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.
- Subjects
HUMAN mitochondrial DNA; CONFIDENCE; GENOMES; AMINO acids; PERITECTIC reactions
- Publication
PLoS Computational Biology, 2017, Vol 13, Issue 6, p1
- ISSN
1553-734X
- Publication type
Article
- DOI
10.1371/journal.pcbi.1005628