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Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease

Can structural information of proteins generate essential features for predicting the deleterious effect of a single nucleotide variant (SNV) independent of the known existence of the SNV in diseases? In this work, we answer the question by examining the performance of features generated from prior...

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Detalles Bibliográficos
Autores principales: Dehiya, Vasundhara, Thomas, Jaya, Sael, Lee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161878/
https://www.ncbi.nlm.nih.gov/pubmed/30265692
http://dx.doi.org/10.1371/journal.pone.0204101