User:TLopdell/HGVS nomenclature

The HGVS nomenclature is a system for providing unambiguous descriptions of mutations in DNA, RNA or proteins that is advocated by the Human Genome Variation Society (HGVS). It is designed to allow representation of multiple variant classes, including substitutions, insertions, deletions, and copy-number variants. It can be used ... The HGVS nomenclature is recommended by the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the Human Genome Organisation (HUGO).

Background
Discussions suggesting the desirability of a unified variant nomenclature began in 1993, with the idea that it should be possible to describe mutations in a standardised way that is internationally recognised, as well as "unequivocal, precise, and short". However, it quickly became apparent that there was considerable disagreement between researchers on the best way to do this, so a committee was established to discuss the various proposals and come to consensus. This committee published its first set of recommendations in 1996, followed by subsequent publications in 1998 and 2000 , culminating in a summary of the recommendations published in 2003.