Information to be included in a gene/disease specific database
The ideal database should be as inclusive as possible, and collaboration between scientists and clinicians is recommended to form a uniform approach to optimise the quality and use of information .
The scope of information in any database depends on the purpose the database is designed to fill and the availability of data.
General information to accompany the database
- Explanation of content and purpose of database
- Clearly define the purpose of the database and the context in which the information/data is intended to be used (clinical diagnostics, research, theranostics, etc.) .
- Curator/organisation details
- Including level of curation .
- Database policy
- Date of last update 
- Online submission information including submission instruction guide 
- Registration 
- Include requirements for data access that is not publicly available .
- Disclaimers, Terms and conditions, copyright
General information to be provided in the database
The essential aspect of a gene/disease specific database focuses around description of allelic variants 
- Link to reference sequence
- All variant reporting is required to be in relation to genomic reference sequences; coding DNA, RNA and protein.
- The recommended format for reference sequences is the LRG sequence format
- If an LRG does not exist, a new LRG record can be requested via the above website
- Information or link to information on the gene
- It is recommended that the database website provides links to additional locus/phenotype information, and links to gene/disease information resources for the public to access 
For more information, see the following publications: [3,4,5,6].
Minimal standard Gene-specific information
- Standardised gene name and gene symbol .
- Chromosomal location
- Variant description
- Description at DNA/RNA level
- Description at protein level
- Complete reference list of variations
- A table of all variants in the database 
- Links to references
- The source of the variant information (literature/direct submission etc) 
TipMutalyzer is an extremely useful online tool for checking variant descriptions for errors or deviation from the HGVS nomenclature.
For more information, see the following publications: [8,3,4,5,6]
- Effect on protein function
- List of known and suspected disease associations and causal links
- Disease and phenotypic information: summary and/or detailed description 
When available, phenotypic and supporting information should be provided, and this may include:
- Patient history and diagnosis
- Inheritance information, carrier status
- Age at diagnosis
- Relevant non-genetic pathology and medical results
- Mutation frequency information
- Detection methods
- Population information
Warning!Care should be taken whenever information about individuals is included in a database. For more information, refer to the section of this guide on Ethical, Legal and Social Issues.
For more information, see the following publications: [8,3]
Data contained in gene/disease specific databases is generated from these main sources :
- Published literature
- Other databases
- Direct submission
- Unpublished laboratory/clinical data
- HVP Country Nodes 
- 1.Vihinen, M., Dunnen, J.T. den, Dalgleish, R., and Cotton, R.G.H. Guidelines for establishing locus specific databases. Human Mutation 33, 2 (2012), 298–305.
- 2.Royal College of Pathologists of Australia. Standards for clinical databases of genetic variants. 2014.
- 3.Celli, J., Dalgleish, R., Vihinen, M., Taschner, P.E.M., and Dunnen J.T., den. Curating gene variant databases (LSDBs): Toward a universal standard. Human Mutation 33, 2 (2012), 291–297.
- 4.Scriver, C.R., Nowacki, P.M., and H., L. Guidelines and Recommendations for Content, Structure and Deployment of Mutation Databases. Human Mutation 13, (1999), 344–350.
- 5.Scriver, C.R., Waters, P.J., Sarkissian, C., et al. PAHdb: A Locus-Specific Knowledgebase. Human Mutation 15, (2000), 99–104.
- 6.Claustres, M., Horatis, O., Vanevski, M., and Cotton, R.G.H. Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases. Genomic Research 12, (2002), 680–688.
- 7.Dunnen, J.T. den, Antonarakis, S.E., and a, et. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation 15, 1 (2000), 7–12.
- 8.Mitropoulou, C., Webb, A.J., Mitropoulos, K., Brookes, A.J., and Patrinos, G.P. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Human Mutation 31, 10 (2010), 1109–1116.
- 9.Human Variome Project. Project Roadmap 2012-2016. 2012.