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OMIM Explorer specifications


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


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Publication for OMIM Explorer

OMIM Explorer citations


Evaluating phenotype driven approaches for genetic diagnoses from exomes in a clinical setting

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 […]


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

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” (, 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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