As a genetic counselor, the most challenging test results to receive and provide counsel for are often variants of unknown significance (VUS). An abnormality has been detected in the gene, but there is not sufficient data at hand to determine whether the abnormality affects the function of the gene and leads to disease or whether it has no effect and is benign. Having access to a complete and easily searchable repository of inherited disease mutations can be an invaluable tool in clarifying the pathogenicity of a particular VUS. As a complete, up-to-date collection of all published inherited disease mutations, HGMD® allows you to readily identify whether a VUS has been previously described in the literature without tedious and time consuming literature searches. Direct links to the PubMed abstracts of the relevant articles are provided so that you are never more than one click away from the original article describing the mutation of interest. With HGMD® as a resource, you will have the confidence of having researched a particular VUS with the careful consideration required to explain its clinical implications to the patient and at-risk family members.
For those who are working with whole genome or exome sequencing data, HGMD® is now integrated with Variant Analysis. The combination of analytical tools and content helps you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and your own knowledge of disease biology. Together, Variant Analysis with HGMD® integrated offers the most reliable, high-quality and comprehensive resource available for understanding your sequencing data.
Why should you get a subscription to BIOBASE’s databases?
- Save time – easy and confidently research variants of unknown significance (VUS), follow links to original references without tedious and time consuming literature searches
- Your subscription includes regular updates so you will always be current with the literature, including the latest information about reclassified VUS and disease-causing mutations
- HGMD® content is endorsed by prominent scientists and clinicians – browse the many publications that cite use of HGMD® data
- BIOBASE data is known for its rich quality and accuracy cross-referenced to its original literature source, so you can be confident with using it for clinical interpretation