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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...
Autores principales: | Dehiya, Vasundhara, Thomas, Jaya, Sael, Lee |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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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 |
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