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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Detalles Bibliográficos
Autores principales: Jaravine, Victor, Balmford, James, Metzger, Patrick, Boerries, Melanie, Binder, Harald, Boeker, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563776/
https://www.ncbi.nlm.nih.gov/pubmed/32938008
http://dx.doi.org/10.3390/genes11091076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563776/
https://www.ncbi.nlm.nih.gov/pubmed/32938008
http://dx.doi.org/10.3390/genes11091076

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