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WELCOME TO DIDA


DIDA 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.

DIDA –  publication and citation

DIDA is published in the Nucleic Acids Research Database issue 2016 and has been selected as a NAR 2016 Breaktrough paper. The manuscript can be accessed here.

Please cite: Gazzo,A.M., Daneels,D., Cilia,E., Bonduelle,M., Abramowicz,M., Van Dooren,S., Smits,G. and Lenaerts,T. (2015) DIDA: A curated and annotated digenic diseases database. Nucl. Acids Res., 10.1093/nar/gkv1068.

What is digenic inheritance?

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It has been argued that many disorders classically considered monogenic may be better described by more complex inheritance mechanisms. One example can be found in those diseases with imperfect genotype-phenotype correlations, which might, in a monogenic context, be considered as showing reduced penetrance, but could also be explained by a two-loci or even multi-loci model (1). Consequently the time has arrived to bundle data that will allow the genomic researchers to also focus on this more difficult class of oligo- and polygenic disorders.

As it is not possible to retrieve detailed records regarding oligogenic diseases from existing biomedical databases, there is a need to develop new services focused on oligogenic inheritance models, starting from the digenic diseases. The simplest information concerning the combinations of variants mapped on genes, responsible for the development of a disease, is often not available. For this reason we developed DIDA. It provides information and insight into how variants jointly lead to disease. Making such information publicly available is the essential first step towards intensifying research into the combinatorial nature of many diseases, even when those were classically considered to be monogenic.

References:

(1) Robinson, J. & Katsanis, N. in Vogel and Motulsky’s Human Genetics (eds. Speicher, M., Motulsky, A. & Antonarakis, S.) 243–262 (Springer Berlin Heidelberg, 2010). DOI:978-3-540-37654-5_8

(2) Schäffer, A.A. Digenic inheritance in medical genetics. J Med Genet 50, 641-652 (2013). PMID:23785127