ArticleDatabase : the journal of biological databases and curation2022
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.
Article in Database : the journal of biological databases and curation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- VUStruct: A compute pipeline for high throughput and personalized structural biology.PLoS computational biology · 2026Article
- A novel explainable deep-learning approach for network analysis of epistatic interactions.NAR genomics and bioinformatics · 2026Article
- Benchmarking knowledge graph embedding models for the prediction of oligogenic combinations.Briefings in bioinformatics · 2026Article
- Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.International dental journal · 2025Article
- Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.American journal of human genetics · 2025Article
- Benchmark of computational methods to detect digenism in sequencing data.European journal of human genetics : EJHG · 2025Review
- Digenic variant interpretation with hypothesis-driven explainable AI.NAR genomics and bioinformatics · 2025Article
- Development of multiplexed orthogonal base editor (MOBE) systems.Nature biotechnology · 2025Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.Nature communications · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- DUVEL: an active-learning annotated biomedical corpus for the recognition of oligogenic combinations.Database : the journal of biological databases and curation · 2024Article
- Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.International journal of molecular sciences · 2024Review
- Prioritization of oligogenic variant combinations in whole exomes.Bioinformatics (Oxford, England) · 2024Article
- Oligogenic basis of premature ovarian insufficiency: an observational study.Journal of ovarian research · 2024Observational
- Detection of Major Mutations inSovremennye tekhnologii v meditsine · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Faster and more accurate pathogenic combination predictions with VarCoPP2.0.BMC bioinformatics · 2023Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Improving the understanding of the oligogenic nature of diseases requires access to high-quality, well-curated Findable, Accessible, Interoperable, Reusable (FAIR) data. Although first steps were taken with the development of the Digenic Diseases Database, leading to novel computational advancements to assist the field, these were also linked with a number of limitations, for instance, the ad hoc curation protocol and the inclusion of only digenic cases. The OLIgogenic diseases DAtabase (OLIDA) presents a novel, transparent and rigorous curation protocol, introducing a confidence scoring mechanism for the published oligogenic literature. The application of this protocol on the oligogenic literature generated a new repository containing 916 oligogenic variant combinations linked to 159 distinct diseases. Information extracted from the scientific literature is supplemented with current knowledge support obtained from public databases. Each entry is an oligogenic combination linked to a disease, labelled with a confidence score based on the level of genetic and functional evidence that supports its involvement in this disease. These scores allow users to assess the relevance and proof of pathogenicity of each oligogenic combination in the database, constituting markers for reporting improvements on disease-causing oligogenic variant combinations. OLIDA follows the FAIR principles, providing detailed documentation, easy data access through its application programming interface and website, use of unique identifiers and links to existing ontologies. DATABASE URL: https://olida.ibsquare.be.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.