HGVS mutation nomenclature

The Human Genome Variation Society has introduced a standardized nomenclature for describing mutations, in an effort to increase the cross-compatibility of databases, tools, and published literature. The full description of this nomenclature can be found here.

In order to assist with this effort and provide a computer-friendly description of the mutations, HbVar has an output option to list the HGVS-style descriptions for the mutations selected by a query. This can be used, with minor file format changes, as input for programs such as Mutalyzer.

However, some of the mutations described in HbVar are complex, and the current HGVS rules do not cover all the mutations at this time. To generate HGVS-style descriptions for these complex variants, we simplify their mutations by splitting them up and listing the component changes separately (in this output format only). No attempt is made to indicate whether there is a logical AND or OR between these components, and only the ID number indicates which entries belong together.

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