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Annotation of Human Exome Gene Variants with Consensus Pathogenicity

A novel approach is developed to address the challenge of annotating with phenotypic effects those exome variants for which relevant empirical data are lacking or minimal. The predictive annotation method is implemented as a stacked ensemble of supervised base-learners, including distributed random...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Jaravine, Victor, Balmford, James, Metzger, Patrick, Boerries, Melanie, Binder, Harald, Boeker, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563776/
https://ncbi.nlm.nih.gov/pubmed/32938008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091076
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