ArticleDatabase : the journal of biological databases and curation2013
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
Article in Database : the journal of biological databases and curation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed.
- AI semantics for biomedical data integration.bioRxiv : the preprint server for biology · 2026Article
- INDIGENA: inductive prediction of disease-gene associations using phenotype ontologies.Bioinformatics (Oxford, England) · 2026Article
- Introduction to animal modelling: factors and tools for choosing the optimal model for sarcoma research-a comprehensive literature review.Translational cancer research · 2026Review
- International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease.Nucleic acids research · 2026Article
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.Genome medicine · 2025Article
- International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease.bioRxiv : the preprint server for biology · 2025Article
- The Unified Phenotype Ontology : a framework for cross-species integrative phenomics.Genetics · 2025Article
- Article
- Genetic evidence informs the direction of therapeutic modulation in drug development.npj drug discovery · 2025Article
- The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.bioRxiv : the preprint server for biology · 2024Article
- Unraveling druggable cancer-driving proteins and targeted drugs using artificial intelligence and multi-omics analyses.Scientific reports · 2024Article
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Computational identification of disease models through cross-species phenotype comparison.Disease models & mechanisms · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.European journal of human genetics : EJHG · 2024Article
- SSLpheno: a self-supervised learning approach for gene-phenotype association prediction using protein-protein interactions and gene ontology data.Bioinformatics (Oxford, England) · 2023Article
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies.Nucleic acids research · 2023Article
- The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic acids research · 2023Article
42 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors.
Funding
Abstract
The ultimate goal of studying model organisms is to translate what is learned into useful knowledge about normal human biology and disease to facilitate treatment and early screening for diseases. Recent advances in genomic technologies allow for rapid generation of models with a range of targeted genotypes as well as their characterization by high-throughput phenotyping. As an abundance of phenotype data become available, only systematic analysis will facilitate valid conclusions to be drawn from these data and transferred to human diseases. Owing to the volume of data, automated methods are preferable, allowing for a reliable analysis of the data and providing evidence about possible gene-disease associations. Here, we propose Phenotype comparisons for DIsease Genes and Models (PhenoDigm), as an automated method to provide evidence about gene-disease associations by analysing phenotype information. PhenoDigm integrates data from a variety of model organisms and, at the same time, uses several intermediate scoring methods to identify only strongly data-supported gene candidates for human genetic diseases. We show results of an automated evaluation as well as selected manually assessed examples that support the validity of PhenoDigm. Furthermore, we provide guidance on how to browse the data with PhenoDigm's web interface and illustrate its usefulness in supporting research. Database URL: http://www.sanger.ac.uk/resources/databases/phenodigm
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Registered trials
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.