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An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants

Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs), predominantly involved in RNA processing or gene regulati...

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Detalles Bibliográficos
Autores principales: Ranganathan Ganakammal, Satishkumar, Alexov, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565489/
https://www.ncbi.nlm.nih.gov/pubmed/32967157
http://dx.doi.org/10.3390/genes11091102