Article
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.
PLoS computational biology - 1 Jun 2017
Castellana Stefano, Fusilli Caterina, Mazzoccoli Gianluigi, Biagini Tommaso, Capocefalo Daniele, Carella Massimo, Vescovi Angelo Luigi, Mazza Tommaso
Abstract excerpt
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...
Topics
Join the communities discussing this publication.