Conclusion
With the volume of biological sequence variation data ever-rising, there
is a need for lightweight and customizable tooling to facilitate the
management of local collections of this variant data. An analysis of a
variant collection maintained by HCI revealed a need for tooling that
can manage duplicate detection and asynchronously generate suggestions
for HGVS expression updates and updates to clinical significance
interpretations. LocalVar was created as an institution-agnostic
prototype. This proof-of-concept application can be installed locally
and initialized with any comma-separated file as long as that file
contains unique row identifiers and an HGVS expression and some kind of
interpretation field for each record. It uses asynchronous monthly
updates from ClinVar to provide update suggestions that can be accepted
or declined. This tool is intended to replace the use of Excel or SQL to
manage local collections of biological sequence variation.