Variobox: Automatic Detection and Annotation of Human Genetic Variants. Issue 2 (21st November 2013) - Gaspar, Paulo
Abstract Variobox is a new tool to support the sequence analysis workflow through the exploration of individual patient genes and their variants, taking advantage of available web‐sourced knowledge. The application obtains up‐to‐date information about a gene and its variants, and is able to align patient sequences with reference genes and automatically infer variant annotations using HGVS nomenclature.