Standardized Clinical Sequencing Nomenclature

We developed a standardized clinical sequencing nomenclature (CSN) for DNA sequence variant annotation. The aims of CSN are a) to provide a fixed, standardized system in which every variant has a single notation, b) to be identical for all mutation detection methods, c) to use a logical terminology understandable to non-experts, and d) to provide a nomenclature that allows easy visual discrimination between the major classes of variant in clinical genomics. The CSN follows the principles of the HGVS nomenclature, with some minor amendments to ensure compatibility and integration with historical clinical data, whilst also allowing high-throughput automated output from NGS platforms. The CSN is fully detailed in Additional file 1.