VarioML specifications


Unique identifier OMICS_09694
Name VarioML
Software type Framework/Library
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes


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Publication for VarioML

VarioML in publications

PMCID: 4375356
PMID: 25818894
DOI: 10.1093/database/bav024

[…] names for variations (), locus reference genomic (lrg) sequence format for reference sequences (), lovd data management system for lsdbs (), and hgvs nomenclature (). in addition, under review are varioml—variant data exchange format (), variation ontology (vario) for systematic description for variation effects, consequences and mechanisms () and cafe variome, a platform for searching whether […]

PMCID: 4288084
PMID: 25601137
DOI: 10.2196/medinform.3172

[…] require cumbersome manual translation., lightweight object models can rely on ontologies instead of modeling semantics explicitly. we have previously demonstrated this approach in the observ-om and varioml models that were specifically validated for phenotype and genotype information by the gen2phen [] consortium [,]. at its core, observ-om uses only four basic concepts to represent any kind […]

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VarioML institution(s)
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands; Department of Genetics, University of Leicester, Leicester, UK; Medical College of Wisconsin, Milwaukee, WI, USA; Biocomputing Platforms, Ltd, Espoo, Finland; Phenosystems Inc, Brussels, Belgium; INSERM UMR_S910, Faculté de Médecine La Timone, Marseille, France; National Genetics Reference Laboratory, Manchester, UK; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece; Department of Genetics, Genomics Coordination Center University Medical Center Groningen and Groningen Bioinformatics Center, University of Groningen, Groningen, Netherlands; Department of Experimental Medical Science, Lund University, Lund, Sweden; Institute of Biomedical Technology, University of Tampere, Tampere, Finland; Tampere University Hospital, Tampere, Finland
VarioML funding source(s)
The European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project

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