ontologies
GFVO
Genomic Feature and Variation Ontology (GFVO) OWL No license
Last submission date June 30, 2020
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ID http://www.biointerchange.org/gfvo#Haplotype
http://www.biointerchange.org/gfvo#Haplotype
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Preferred name

Haplotype

Definitions

A "Haplotype" is a collection of "Genotype" or "Sequence Variant" instances. It can imply that a set of genes is inherited as a group, or alternatively, that the set of genotypes or sequence variance has a biological function when acting together (e.g., there exists a disease association). Haplotype instances should only catalog a single type, i.e. either "Genotype" or "Sequence Variant" instances; they should not mix both types (see also "Catalog"). Encodes for "HQ" additional information in VCF.

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