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Human phenotype ontology
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Mappings between ontologies enable reuse and interoperability of biomedical knowledge. The Radiology Gamuts Ontology (RGO)—an ontology of 16 918 diseases, interventions, and imaging observations—provides a resource for differential diagnosis and automated textual report understanding in radiology.
6p
visteverogers
24-06-2023
4
2
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Since the establishment of the first biomedical ontology Gene Ontology (GO), the number of biomedical ontology has increased dramatically. Nowadays over 300 ontologies have been built including extensively used Disease Ontology (DO) and Human Phenotype Ontology (HPO). Because of the advantage of identifying novel relationships between terms, calculating similarity between ontology terms is one of the major tasks in this research area.
10p
vilarryellison
29-10-2021
6
0
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The Human Phenotype Ontology (HPO) is one of the most popular bioinformatics resources. Recently, HPO-based phenotype semantic similarity has been effectively applied to model patient phenotype data. However, the existing tools are revised based on the Gene Ontology (GO)-based term similarity. The design of the models are not optimized for the unique features of HPO. In addition, existing tools only allow HPO terms as input and only provide pure text-based outputs.
9p
vitzuyu2711
29-09-2021
19
1
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Exome sequencing is a promising method for diagnosing patients with a complex phenotype. However, variant interpretation relative to patient phenotype can be challenging in some scenarios, particularly clinical assessment of rare complex phenotypes.
11p
vikentucky2711
26-11-2020
7
0
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The prediction of human gene–abnormal phenotype associations is a fundamental step toward the discovery of novel genes associated with human disorders, especially when no genes are known to be associated with a specific disease.
18p
viflorida2711
30-10-2020
11
2
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Named entity recognition is critical for biomedical text mining, where it is not unusual to find entities labeled by a wide range of different terms. Nowadays, ontologies are one of the crucial enabling technologies in bioinformatics, providing resources for improved natural language processing tasks.
12p
viflorida2711
30-10-2020
17
2
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Finding underlying molecular mechanisms of diseases is one of the important issues in biomedical research. In which, prediction of novel disease-associated genes is mostly focused. Many methods have been proposed based on biological networks and shown effectively for the problem.
9p
vititan2711
13-08-2019
11
1
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