Adding features
Because LocalVar is open-source and python-based, it can be modified by
users and have its functionality greatly expanded. One such feature that
was out of scope for this study would be to use other knowledge sources
in addition to ClinVar. With the HGVS bin structure already in use,
implementers would simply need to associate additional synonyms,
interpretations, or other annotations via HGVS expressions. The source
code is classed, heavily commented, and clearly separated into component
files by task. This will assist with expanding the functionality of the
tool. Other features could include support for HGVS expressions that use
protein references, automated detection and exclusion of somatic
variants, the inclusion of additional data points from ClinVar (date
submitted, review status, number of submitters, etc.), support for
different user types and edit permissions, or the option to submit new
variant records to ClinVar directly from LocalVar.