Curated literature based database of germline human genomic variants database

Scope as published

The requirement is for a database or a tool that clinicians can use to search for rare inherited disease mutations, or search for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository. The Database or tool will need to work by collating all published variants into a detailed repository of information. It should easily allow for variants to be listed using transcripts, to ensure that scientists can easily search for the variant they are researching which enormously reduces scientific analytical time, and in turn turn around times for patients.

Classifications