دورية أكاديمية
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE
| العنوان: | High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE |
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| المؤلفون: | Castellana, Stefano, Fusilli, Caterina, Mazzoccoli, Gianluigi, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Vescovi, Angelo Luigi, Mazza, Tommaso |
| المساهمون: | Castellana, Stefano, Fusilli, Caterina, Mazzoccoli, Gianluigi, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Vescovi, Angelo Luigi, Mazza, Tommaso |
| بيانات النشر: | Public Library of Science |
| سنة النشر: | 2017 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | Chromosome Mapping, DNA Mutational Analysi, Genetic Variation, Genome, Human, Mitochondrial, Machine Learning, Pattern Recognition, Automated, Reproducibility of Result, Sensitivity and Specificity, Software, Algorithm, Ecology, Evolution, Behavior and Systematic, Modeling and Simulation, Molecular Biology, Genetic, Cellular and Molecular Neuroscience, Computational Theory and Mathematics |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/28640805; info:eu-repo/semantics/altIdentifier/wos/WOS:000404565400056; volume:13; issue:6; firstpage:e1005628; journal:PLOS COMPUTATIONAL BIOLOGY; http://hdl.handle.net/11573/1021274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021737153; http://www.ploscompbiol.org/article/browseVolume.action?field=volumeTest |
| DOI: | 10.1371/journal.pcbi.1005628 |
| الإتاحة: | https://doi.org/10.1371/journal.pcbi.1005628Test http://hdl.handle.net/11573/1021274Test http://www.ploscompbiol.org/article/browseVolume.action?field=volumeTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.4B587195 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1371/journal.pcbi.1005628 |
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