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.

ID

http://www.biointerchange.org/gfvo#Haplotype

comment

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.

isDefinedBy

http://samtools.github.io/hts-specs/VCFv4.2.pdf

http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41

http://samtools.github.io/hts-specs/VCFv4.1.pdf

label

Haplotype

prefixIRI

Haplotype

prefLabel

Haplotype

seeAlso

http://en.wikipedia.org/wiki/Haplotype

subClassOf

http://www.biointerchange.org/gfvo#Catalog

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Internal mappings

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http://purl.obolibrary.org/obo/SO_0001024 Sequence Types and Features Ontology LOOM
http://www.loria.fr/~coulet/ontology/snpontology/version1.6/snpontology_full.owl#haplotype Single-Nucleotide Polymorphism (SNP) Ontology LOOM
http://semanticscience.org/resource/SIO_010042 Semanticscience Integrated Ontology LOOM

Interportal mappings

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External mappings

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