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Variation nomenclature/ontologies | Genome variant analysiss

Systematic representation of information related to genetic and non-genetic variations is required to allow large scale studies, data mining and data integration, and to make it possible to reveal novel relationships between genotype and…
VariO
Terminology

VariO Variation Ontology

An ontology for standardized, systematic description of effects, consequences…

An ontology for standardized, systematic description of effects, consequences and mechanisms of variations. VariO allows unambiguous description of variation effects as well as computerized analyses…

HGVS
Terminology

HGVS Human Genome Variation Society Sequence Variant Nomenclature

Recommendations for the description of sequence variants. HGVS-nomenclature is…

Recommendations for the description of sequence variants. HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an…

FROG
Terminology

FROG FingeRprinting Ontology of Genomic variations

A semantic approach is implemented to label variation data, based on its…

A semantic approach is implemented to label variation data, based on its location, function and interactions. FROG has six levels to describe the variation annotation, namely, chromosome, DNA, RNA,…

GFVO
Terminology

GFVO Genomic Feature and Variation Ontology

Enables the generic representation of genomic feature and variation data. GFVO…

Enables the generic representation of genomic feature and variation data. GFVO specifically addresses genomic data as it is regularly shared using the GFF3 (incl. FASTA), GTF, GVF and VCF file…

PaGE-OM
Dataset

PaGE-OM Phenotype and Genotype Experiment Object Model

Provides a timely, robust, and useful data model, sufficiently developed and…

Provides a timely, robust, and useful data model, sufficiently developed and tested to justify formal registration and deployment to the many and various communities engaged in genotype-phenotype…

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