DIDA: A curated and annotated digenic diseases database

Andrea M Gazzo, Dorien Daneels, Elisa Cilia, Maryse Bonduelle, Marc Abramowicz, Sonia Van Dooren, Guillaume Smits, Tom Lenaerts

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time detailed information on genes and associated genetic variants involved in digenic diseases, the simplest form of oligogenic inheritance. The database is accessible via http://dida.ibsquare.be and currently includes 213 digenic combinations involved in 44 different digenic diseases. These combinations are composed of 364 distinct variants, which are distributed over 136 distinct genes. The web interface provides browsing and search functionalities, as well as documentation and help pages, general database statistics and references to the original publications from which the data have been collected. The possibility to submit novel digenic data to DIDA is also provided. Creating this new repository was essential as current databases do not allow one to retrieve detailed records regarding digenic combinations. Genes, variants, diseases and digenic combinations in DIDA are annotated with manually curated information and information mined from other online resources. Next to providing a unique resource for the development of new analysis methods, DIDA gives clinical and molecular geneticists a tool to find the most comprehensive information on the digenic nature of their diseases of interest.

Original languageEnglish
Pages (from-to)D900-D907
Number of pages8
JournalNucleic Acids Research
Volume44
Issue numberD1
Early online date19 Oct 2015
DOIs
Publication statusPublished - 4 Jan 2016

Bibliographical note

Nucleic Acid Research 2016 breakthrough article: http://www.oxfordjournals.org/our_journals/nar/2016_breakthrough_articles.html

Keywords

  • digenic
  • genomics
  • bioinformatics

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