OMIM Explorer statistics

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Citations per year

Number of citations per year for the bioinformatics software tool OMIM Explorer
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Tool usage distribution map

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Associated diseases

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Popular tool citations

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OMIM Explorer specifications

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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 citation

library_books

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome wide diagnostics

2016
Genome Med
PMCID: 4736244
PMID: 26838676
DOI: 10.1186/s13073-016-0261-8

[…] R statistical programming language, to create an interactive, stateful implementation of our transitive variant prioritization and disease gene discovery workflow. We have named this novel software “OMIM Explorer” (OE) and made it available at http://www.omimexplorer.com. Links at the site also provide access to detailed tutorial videos describing the intended use of software features and providi […]


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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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