DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases

Area of Science:

• Genetics
• Genomic Medicine
• Bioinformatics

Background:

• Tandem repeat expansions in genes are associated with severe neurological disorders.
• Existing knowledge on repeat expansion disease genes is fragmented across scientific literature.
• Systematic prediction of novel genes implicated in repeat expansion diseases is currently limited.

Purpose of the Study:

• To establish a comprehensive, manually curated database of genes associated with repeat expansion diseases.
• To predict and include genes with the potential to cause diseases through repeat expansion.
• To provide a centralized resource for researchers and clinicians focused on repeat expansion disorders.

Main Methods:

• Manual curation of known repeat expansion disease genes from PubMed and OMIM.
• Computational prediction of potential disease-causing genes based on repeat composition, genetic variations, genomic features, and disease associations.
• Integration of data with external resources like NCBI and ClinVar.

Main Results:

• The Database of genes related to Repeat Expansion Diseases (DRED) includes all 61 known genes associated with repeat expansion diseases.
• DRED identifies 516 additional genes with the potential to cause diseases via repeat expansion.
• The database offers detailed repeat information and links to external genetic variation and clinical databases.

Conclusions:

• DRED serves as a valuable, user-friendly resource for the study of repeat expansion diseases.
• The database facilitates both basic research and clinical diagnosis of genetic disorders caused by repeat expansions.
• DRED will be regularly updated to incorporate newly discovered genes and associated information.