As a genetic counselor, having access to a complete and easily searchable repository of inherited disease mutations can be an invaluable tool in your day-to-day work, providing easy access to information which can aid in making diagnoses or in providing supporting details for written reports. As a complete, up-to-date collection of all published inherited disease mutations, HGMD® allows you to readily identify all inherited mutations associated with a given gene or disease, or to easily map a specific mutation to the gene that it affects, without tedious and time consuming literature searches. With links back to the PubMed abstract of the relevant supporting articles you’re never more than one click away from the original article describing a mutation of interest.
For those who are working with whole genome or exome sequencing data, the complementary Genome Trax™ offering is provided. Developed as a specialized tool that works directly with HGMD® data, Genome Trax™ makes it easy to upload a complete genome’s worth of variations and, within minutes, identify the biologically relevant subset that have been described as characterized mutations or that are novel but fall within a candidate disease gene. A download subscription provides access to all Genome Trax annotations via relational database, API or flat files in the form of .bed and .gff.
For times when more information is required about a candidate disease gene, including changes other than mutation that affect the disease process, the PROTEOME™ offering is provided.
Why should you get a subscription to BIOBASE’s databases?
- Save time - easy to use online search interface allows you to find information about your favorite gene, disease or mutation without reading lists of references.
- Be current with the literature – your subscription includes regular updates.
- Content endorsed by prominent scientists and clinicians, browse publications that cite the 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.