OLIDA: OLIgogenic diseases DAtabase

OLIDA curates and annotates oligogenic variant combinations linked to human diseases to support analysis of oligogenic inheritance and disease mechanisms.

Key Features:

• Comprehensive Data Collection: Contains 916 unique oligogenic variant combinations associated with 159 distinct diseases compiled from curated peer-reviewed literature and public databases.
• Rigorous Curation Protocol: Applies a transparent, systematic curation protocol to extract and standardize genetic and functional evidence from the scientific literature and public resources.
• Confidence Scoring Mechanism: Assigns a confidence score to each oligogenic variant combination reflecting the level of genetic and functional evidence supporting disease causation.
• FAIR Principles Compliance: Employs unique identifiers and links to existing ontologies to promote interoperability and reusability of the data.

Scientific Applications:

• Oligogenic disease research: Enables investigation of the oligogenic nature of diseases by providing curated combinations of variants and associated evidence.
• Computational method development: Serves as a reference dataset for developing and benchmarking algorithms that study genetic interactions and oligogenic inheritance.
• Disease mechanism elucidation: Supports identification of variant combinations that inform hypotheses about molecular and genetic mechanisms underlying disease.
• Therapeutic target and biomarker discovery: Assists in nominating candidate targets and biomarkers by linking variant combinations to specific disease contexts.
• Clinical genomics and personalized medicine: Informs interpretation of multi-variant genotypes in clinical and translational studies toward personalized interventions.

Methodology:

Data are extracted from peer-reviewed scientific literature and integrated with public database records, and each oligogenic combination is assigned a confidence score based on available genetic and functional evidence.