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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    


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    <!-- http://purl.obolibrary.org/obo/GENO_0000872 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000872">
        <rdfs:label xml:lang="en">genomic sequence set</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000963 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000963">
        <rdfs:label xml:lang="en">functional copy complement</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/GENO_0000872"/>
        <ns2:IAO_0000115>A set representing the complement of all functional versions of a specified sequence (typically that of a gene) in a particular genome.</ns2:IAO_0000115>
        <rdfs:comment>A &#39;complement&#39; refers to an exhaustive collection of *all* objects that make up some well-defined set. Such a set may contain 0, 1, or more than one members. The notion of a complement is useful for defining many biologically-relevant sets of sequence features, such as the set of all functional copies of a particular sequence in a genome. This is known as the &#39;functional copy number&#39; or &#39;genetic dosage&#39; of the sequence.

&#39;Functional copies&#39; of a sequence are those that exhibit normal activity and/or produce gene products that exhibit normal activity associated with the sequence. The count of functional copies of a gene is often referred to as its &#39;dosage&#39;. In diploid organisms, the normal &#39;dosage&#39; is 2 for autosomal genes/regions. Dosage increases if there is a duplication of a functional 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 a &#39;copy number complement&#39;, which reflects how many copies of a sequence exist in a genome, regardless of their functionality. Addition of a non-functional allele of a gene will increase its copy number, but not increase its dosage.

As we saw for &#39;copy number complement&#39;, the defining sequence here is specified in terms of a location on a reference sequence - typically the location where a gene or set of genes resides.  But the criteria for membership in a &#39;functional&#39; copy number complement require only that the feature can perform the functions associated with the gene or genes at the defining location.  A gene allele that varies by only one nucleotide from the wild-type gene may not qualify as functional if that alteration eliminates the activity of the allele.</rdfs:comment>
        <ns2:IAO_0000118>functional genetic dosage</ns2:IAO_0000118>
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