Article
Consistency of the Tools That Predict the Impact of Single Nucleotide Variants (SNVs) on Gene Functionality: The BRCA1 Gene.
Biomolecules - 20 Mar 2020
Murillo Javier, Spetale Flavio, Guillaume Serge, Bulacio Pilar, Garcia Labari Ignacio, Cailloux Olivier, Destercke Sebastien, Tapia Elizabeth
Abstract excerpt
Single nucleotide variants (SNVs) occurring in a protein coding gene may disrupt its function in multiple ways. Predicting this disruption has been recognized as an important problem in bioinformatics research. Many tools, hereafter p-tools, have been designed to perform these predictions and many of them are now of common use in scientific research, even in clinical applications. This highlights the importance...
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