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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000231"/>
    


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    <!-- http://purl.obolibrary.org/obo/GENO_0000876 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000876">
        <rdfs:label>obsolete genetic dosage</rdfs:label>
        <deprecated rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</deprecated>
        <ns3:IAO_0000118>an attribute inhering in a feature based on the total number or relative stoichiometry of functional copies present in a particular genome.</ns3:IAO_0000118>
        <rdfs:comment>Genetic dosage reflects how many &#39;functional&#39; copies of a sequence are present in a genome. In diploid organisms, the normal dosage is 2 for autosomal genes/regions. Dosage increases if there is a duplication of the gene/region. Dosage decreases if there is either a deletion of a gene/region, or an inactivating mutation that eliminates gene function. This sets it apart from the notion of &#39;copy number&#39;, which reflects how many actual copies of a sequence exist in a genome. Addition of a non-functional allele of a gene will increase its copy number, but not increase its dosage.

Duplications of a sequence can occur at new locations in the genome, such that the resulting sequence represents a distinct sequence feature from the copy at its native locus.  For example, duplication of a region containing the human APOE gene on a different chromosome creates a sequence feature that shares sequence from the original gene, but not location, and therefore represents a different sequence feature.  The notions of dosage and copy number are therefore concerned with sequence-level entities (how many copies of a &#39;sequence&#39; exist), as opposed to sequence feature-level entities.  The notion of a single-locus complement would be used to describe how many of a particular features are present in a genome - and describe which alleles of this feature are found.</rdfs:comment>
        <ns3:IAO_0000118>allelic dosage</ns3:IAO_0000118>
        <ns3:IAO_0000118>gene dosage</ns3:IAO_0000118>
        <ns3:IAO_0000231>Remodeled this concept as a &#39;genetic dosage complement&#39; - a sequence-level class, as opposed to a sequence feature attribute.</ns3:IAO_0000231>
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