Gene/disease specific databases are curated, online collections of information on genetic variations in a single gene, gene family or set of genes implicated in a single disease.
Also known as locus specific databases (LSDBs), they provide their information to the scientific community free of charge and with minimal restrictions on how their data can be used. Approximately 1800 gene/disease specific databases currently exist, gathering information on specific genes and diseases from the published literature, direct submission by researchers, and numerous other sources. Critically, these databases curate this information, ensuring that it is of a consistently high quality. The Human Variome Project recognises the importance of these databases, but is also aware that they cover a limited region of the genome. The Human Variome Project is working to expand these existing databases, and also encourage the creation of new ones to eventually cover all 20,000 human genes.
Why do we Need Disease Specific Databases?
Gene/disease specific databases have long been recognised as the best way to collect, organise and share information on genetic variation and their effect on patients. By limiting their scope to particular genes or diseases, the database curators, typically academic researchers whose works focus exclusively on the genes/diseases in question, are better able to assess the consequences of the sequence changes reported in the database. As next-generation sequencing becomes more prevalent, expert oversight of this variety will take on an increasing importance. Gene/disease specific databases are also more able to identify and collect the clinical data that are of most use to the researchers and clinicians working with these genes and disorders.
Access to complete, curated molecular and clinical information on the variations implicated in a particular disorder has a profound impact on the type of research that can be conducted into inherited diseases and will pave the way to more accurate diagnoses and treatments for these diseases.
The Human Variome Project is supporting the creation and operation of gene/disease specific databases in a number of ways.
- The Gene/Disease specific Database Advisory Council, which every database is entitled to appoint a representative to, produces standards and guidelines in areas as diverse as nomenclature, ethics and phenotype ontologies.
- Training programmes and resources are available for data generation, collection methods, digital curation and data sharing.
- The network of HVP Country Nodes provides access to data from laboratories all around the world.
The Human Variome Project reccommends the use of the list of gene/disease specific databases maintained by the LOVD group at the Leiden University Medical Centre
LUMC: Locus Specific Mutation Databases