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The Developmental Brain Disorders Database (DBDB): a curated neurogenetics
knowledge base with clinical and research applications
#MMPMID24700709
Mirzaa GM
; Millen KJ
; Barkovich AJ
; Dobyns WB
; Paciorkowski AR
Am J Med Genet A
2014[Jun]; 164A
(6
): 1503-11
PMID24700709
show ga
The number of single genes associated with neurodevelopmental disorders has
increased dramatically over the past decade. The identification of causative
genes for these disorders is important to clinical outcome as it allows for
accurate assessment of prognosis, genetic counseling, delineation of natural
history, inclusion in clinical trials, and in some cases determines therapy.
Clinicians face the challenge of correctly identifying neurodevelopmental
phenotypes, recognizing syndromes, and prioritizing the best candidate genes for
testing. However, there is no central repository of definitions for many
phenotypes, leading to errors of diagnosis. Additionally, there is no system of
levels of evidence linking genes to phenotypes, making it difficult for
clinicians to know which genes are most strongly associated with a given
condition. We have developed the Developmental Brain Disorders Database (DBDB:
https://www.dbdb.urmc.rochester.edu/home), a publicly available, online-curated
repository of genes, phenotypes, and syndromes associated with neurodevelopmental
disorders. DBDB contains the first referenced ontology of developmental brain
phenotypes, and uses a novel system of levels of evidence for gene-phenotype
associations. It is intended to assist clinicians in arriving at the correct
diagnosis, select the most appropriate genetic test for that phenotype, and
improve the care of patients with developmental brain disorders. For researchers
interested in the discovery of novel genes for developmental brain disorders,
DBDB provides a well-curated source of important genes against which research
sequencing results can be compared. Finally, DBDB allows novel observations about
the landscape of the neurogenetics knowledge base.
free
free
free
