OMIM Explorer statistics

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Citations per year

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Popular tool citations

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Tool usage distribution map

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Associated diseases

Associated diseases

OMIM Explorer specifications

Information


Unique identifier OMICS_11207
Name OMIM Explorer
Alternative name OE
Interface Web user interface
Restrictions to use None
Input data A set of HPO terms describing the clinical presentation of a patient.
Input format VCF
Computer skills Basic
Stability No
Maintained No

Maintainer


This tool is not available anymore.

Publication for OMIM Explorer

OMIM Explorer in publications

 (2)
PMCID: 5647373
PMID: 29044180
DOI: 10.1038/s41598-017-13841-y

[…] random forest learning is used for data integration with the model trained on the human gene mutation database compared to (non-disease) control datasets of common polymorphisms and rare variants., omim explorer is strongly focussed towards clinical diagnostics by applying transitive prioritization which links phenotypes to variants through medically recognised intermediates. the tool […]

PMCID: 4736244
PMID: 26838676
DOI: 10.1186/s13073-016-0261-8

[…] as the online mendelian inheritance in man database (omim) and the human phenotype ontology (hpo), to integrate patient phenotype and variant data into ranked diagnostic alternatives., our tool, “omim explorer” (http://www.omimexplorer.com), extends the biomedical application of semantic similarity methods beyond those reported in previous studies. the tool also provides a simple interface […]


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OMIM Explorer institution(s)
Supported by a fellow of the BCM Medical Scientist Training Program (T32 GM007330); by a fellowship from the National Institute of Neurological Disorders and Stroke (F31 NS083159); by funding from Texas Department of State Health Services (DSHS) and by the Medical Genetics Research Fellowship Program NIH/NIGMS NIH T32 GM07526.

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