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DIDA: A curated and annotated digenic diseases database.

Andrea M Gazzo¹, Dorien Daneels², Elisa Cilia³

¹Interuniversity Institute of Bioinformatics in Brussels, Boulevard du Triomphe CP 263, 1050 Brussels, Belgium MLG, Département d'Informatique, Université Libre de Bruxelles, Boulevard du Triomphe, CP 212, 1050 Brussels, Belgium Center for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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|October 21, 2015

Summary

This summary is machine-generated.

DIDA is a new database detailing genes and variants in digenic diseases, offering comprehensive information not found elsewhere. This resource aids researchers and clinicians in understanding complex genetic conditions.

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Area of Science:

Genetics
Bioinformatics
Genomic Medicine

Background:

Digenic diseases, a form of oligogenic inheritance, involve multiple genes.
Existing databases lack comprehensive data on digenic disease gene combinations.
Understanding digenic inheritance is crucial for diagnosing complex genetic disorders.

Purpose of the Study:

To introduce DIDA (DIgenic diseases DAtabase), a novel resource for digenic disease information.
To provide a centralized repository for genes, variants, and combinations involved in digenic diseases.
To support research and clinical practice by offering detailed digenic disease data.

Main Methods:

Development of a dedicated web-accessible database (http://dida.ibsquare.be).
Manual curation and data mining from online resources for gene, variant, and disease information.
Implementation of browsing, searching, and data submission functionalities.

Main Results:

DIDA currently contains 213 digenic combinations across 44 diseases.
The database includes 364 distinct variants distributed across 136 distinct genes.
Annotated information includes manually curated data and data from other online sources.

Conclusions:

DIDA is the first database to offer detailed information on digenic disease combinations.
The database serves as a unique resource for developing new analysis methods.
DIDA provides clinical and molecular geneticists with a comprehensive tool for digenic disease research.