ArticleInterface focus2013
An integrative, translational approach to understanding rare and orphan genetically based diseases.
Article in Interface focus, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Bridging mouse and human anatomies; a knowledge-based approach to comparative anatomy for disease model phenotyping.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- PheSom: a term frequency-based method for measuring human phenotype similarity on the basis of MeSH vocabulary.Frontiers in genetics · 2023Article
- The anatomy of phenotype ontologies: principles, properties and applications.Briefings in bioinformatics · 2018Article
- Integrating phenotype ontologies with PhenomeNET.Journal of biomedical semantics · 2017Article
- Semantic prioritization of novel causative genomic variants.PLoS computational biology · 2017Article
- Evaluating the effect of annotation size on measures of semantic similarity.Journal of biomedical semantics · 2017Article
- The role of ontologies in biological and biomedical research: a functional perspective.Briefings in bioinformatics · 2015Article
- Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.Scientific reports · 2015Article
- Genetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes.Nature communications · 2015Article
- An ontology approach to comparative phenomics in plants.Plant methods · 2015Article
- Similarity-based search of model organism, disease and drug effect phenotypes.Journal of biomedical semantics · 2015Article
- Mouse model phenotypes provide information about human drug targets.Bioinformatics (Oxford, England) · 2014Article
- Progress and challenges in the computational prediction of gene function using networks: 2012-2013 update.F1000Research · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
PhenomeNet is an approach for integrating phenotypes across species and identifying candidate genes for genetic diseases based on the similarity between a disease and animal model phenotypes. In contrast to 'guilt-by-association' approaches, PhenomeNet relies exclusively on the comparison of phenotypes to suggest candidate genes, and can, therefore, be applied to study the molecular basis of rare and orphan diseases for which the molecular basis is unknown. In addition to disease phenotypes from the Online Mendelian Inheritance in Man (OMIM) database, we have now integrated the clinical signs from Orphanet into PhenomeNet. We demonstrate that our approach can efficiently identify known candidate genes for genetic diseases in Orphanet and OMIM. Furthermore, we find evidence that mutations in the HIP1 gene might cause Bassoe syndrome, a rare disorder with unknown genetic aetiology. Our results demonstrate that integration and computational analysis of human disease and animal model phenotypes using PhenomeNet has the potential to reveal novel insights into the pathobiology underlying genetic diseases.
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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.