Variation OK, but not in name

20 Dec 2011

The boost in sequencing efforts provides a wealth of information on genetic variants. This information is highly valuable to clinical diagnosis of disease, but requires unambiguous descriptions of the variants to prevent mistakes. A standard nomenclature for sequence variants has been established, but due to additions and extensions the complexity of this nomenclature makes it increasingly difficult for non-experts to understand and use. To assist clinicians and researchers, as well as database curators, Jeroen Laros and colleagues at the Leiden University Medical Centre have worked out formal descriptions of the syntax in Extended Backus-Naur Form (EBNF) on the DNA-RNA level and on the protein level. These descriptions can be easily modified and extended and can be used to develop new tools for text mining and other programmes used in the handling of sequence variant descriptions.

JFJ Laros, A Blavier, JT den Dunnen, PEM Taschner
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form BMC Bioinformatics 2011, 12(Suppl 4):S5

By: Esther Thole

The original article (screenshot).