<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/GENO?iri=http://purl.obolibrary.org/obo/GENO_0000871"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
     xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
     xmlns:dcterms="http://purl.org/dc/terms/"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000116"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.org/dc/terms/source"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0002351 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002351">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#IrreflexiveProperty"/>
        <rdfs:label>has member</rdfs:label>
        <rdfs:label xml:lang="en">has member</rdfs:label>
    </ObjectProperty>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/GENO_0000512 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000512">
        <rdfs:label>allele</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000660 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000660">
        <rdfs:label xml:lang="en">genomic feature set</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000871 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000871">
        <rdfs:label xml:lang="en">haplotype</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/GENO_0000660"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002351"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000512"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:comment>A haplotype is a set of non-overlapping alleles that reside in close proximity on the same DNA strand. We model them as &#39;complements&#39; because they include all known/relevant alleles within a defined region in the genome (e.g. a &#39;gene&#39;, or a &#39;haplotype block&#39;) - where this set may consist of 0, 1, or more alterations from some reference.  Because they are genetically linked, the alleles comprising a haplotype are likely to be co-inherited and survive descent across many generations of reproduction. 

As highlighted in https://en.wikipedia.org/wiki/Haplotype, the term &#39;haplotype&#39; is most commonly used to describe the following scenarios of genetic linkage between &#39;alleles&#39;:

1. The &#39;alleles&#39; comprising the haplotype are &#39;single nucleotide polymorphisms&#39; (SNPs) or other small alterations, which  collectively tend to occur together on a chromosomal strand). This use of &#39;haplotype&#39; is commonly seen in phasing of patient WGS or WES data, to describe a state where two or more alterations that are believed to occur &#39;in cis&#39; on the same chromosomal strand.  

2. The &#39;alleles&#39; comprising the haplotype are SNPs or other short alterations, which collectively define a specific version of a gene. In this case, the locaiton bounding the haplotype corresponds to a gene locus, and the haplotype defines a specific allele of that gene (i.e &#39;gene allele&#39;). &quot;Star alleles&quot; of PGx genes are examples of this category of haplotype (e.g. https://www.ebi.ac.uk/cgi-bin/ipd/imgt/hla/get_allele_hgvs.cgi?A*33:01:01, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724253/).

3. Each of the &#39;alleles&#39; comprising the haplotype is itself a &#39;gene allele&#39; (i.e. a specific version of an entire gene), such that the haolotype contains multiple complete &#39;gene alleles&#39; that are co-inherited because they reside in tightly linked clusters on a single chromosome.   

Each of these more specific definition serves a purpose for a particular type of genetic analysis or use case. The GENO definition of &#39;haplotype&#39; is broadly inclusive of these and any other scenarios where distinct &#39;alleles&#39; of any kind on the same chromosomal strand are genetically linked, and thus tend to be co-inherited across successive generations.</rdfs:comment>
        <ns3:IAO_0000116>Consider if we dont want to define this as a &#39;complement&#39;, as it implies a complet set of memebrs of a defined type.  But many haplotypes will be incomplete, due to lack of knowledge of other variation bound by the haplotype block.

Instead, we can create an &#39;allele set&#39; class as the haplotype parent?</ns3:IAO_0000116>
        <dcterms:source>Informed by https://isogg.org/wiki/Haplotype and https://en.wikipedia.org/wiki/Haplotype.</dcterms:source>
        <ns3:IAO_0000115>A set of discrete, genetically-linked sequence alterations that reside on the same chromosomal strand and are typically co-inherited within a haplotype block.</ns3:IAO_0000115>
    </Class>
</rdf:RDF>



<!-- Generated by the OWL API (version 3.2.4.1806) http://owlapi.sourceforge.net -->



