Article
VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.
Nucleic acids research - 1 Jul 2012
Medina Ignacio, De Maria Alejandro, Bleda Marta, Salavert Francisco, Alonso Roberto, Gonzalez Cristina Y, Dopazo Joaquin
Abstract excerpt
The massive use of Next-Generation Sequencing (NGS) technologies is uncovering an unexpected amount of variability. The functional characterization of such variability, particularly in the most common form of variation found, the Single Nucleotide Variants (SNVs), has become a priority that needs to be addressed in a systematic way. VARIANT (VARIant ANalyis Tool) reports information on the variants found that...
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