fmi_config.ttl

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@prefix var: <http://ns.ontoforce.com/ontologies/variant/>.
@prefix samc: <http://ns.ontoforce.com/ontologies/sample/classes/>.
@prefix varc: <http://ns.ontoforce.com/ontologies/variant/classes/>.
@prefix sam: <http://ns.ontoforce.com/ontologies/sample/>.
@prefix conf: <http://fmi.com/schema/2017/>.
@prefix ct:   <http://fmi.com/schema/2017/CanonicalType/>.
@prefix disq: <http://ns.ontoforce.com/2013/disqover#>.
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#>.

ct:sample
	disq:useAs   disq:CanonicalType;
	disq:icon         "font-awesome fa-user-o";
	rdfs:label        "Sample";
	disq:rank         10;
	disq:description   "The pedriatic sample".

samc:fmi_pp_sample rdfs:subClassOf ct:sample.

<http://fmi.com/schema/2017/facet/sample/age>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Age";
	disq:rank  10;
	disq:description  "The age of the patient at the time of sampling in years";
	disq:property  sam:at_sample_age.

<http://fmi.com/schema/2017/facet/sample/gender>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Gender";
	disq:rank  20;
	disq:description  "The gender of the patient at the time of sampling";
	disq:property  sam:at_sample_gender.

<http://fmi.com/schema/2017/facet/sample/disease>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Disease";
	disq:rank  30;
	disq:description  "Disease of the patient";
	disq:property  sam:disease.

<http://fmi.com/schema/2017/property/sample/age>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Age";
	disq:property  sam:at_sample_age;
	disq:description  "The age of the patient at the time of sampling in years";
	disq:sortable  "Y".

<http://fmi.com/schema/2017/property/sample/assay>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Assay";
	disq:property  sam:assayVersion;
	disq:description  "The version of the assay".

<http://fmi.com/schema/2017/property/sample/gender>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Gender";
	disq:property  sam:at_sample_gender;
	disq:description  "The gender of the patient at the time of sampling".

<http://fmi.com/schema/2017/property/sample/disease>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:sample;
	rdfs:label  "Disease";
	disq:property  sam:disease;
	disq:description  "Disease of the patient".

ct:variant
	disq:useAs   disq:CanonicalType;

	rdfs:label        "Variant";
	disq:rank         20;
	disq:description   "Variants on a genome".

varc:fmi_pp_variant rdfs:subClassOf ct:variant.

<http://fmi.com/schema/2017/facet/variant/variantClass>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Variant Class";
	disq:rank  10;
	disq:property  var:variantClass.

<http://fmi.com/schema/2017/facet/variant/variantType>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Variant Type";
	disq:rank  20;
	disq:property  var:variantType.

<http://fmi.com/schema/2017/facet/variant/chromosome>
	a   disq:Facet;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Chromsome";
	disq:rank  30;
	disq:property  var:chromosome.

<http://fmi.com/schema/2017/property/variant/gene>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Gene";
	disq:property  var:gene;
	disq:description  "Gene on which variant is located".

<http://fmi.com/schema/2017/property/variant/transcript>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Transcript";
	disq:property  var:transcript.

<http://fmi.com/schema/2017/property/variant/variantClass>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Variant Class";
	disq:property  var:variantClass;
	disq:description  "Class of the variant: amplification, deletion, rearrangement or truncatio".

<http://fmi.com/schema/2017/property/variant/variantType>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Variant Type";
	disq:property  var:variantType;
	disq:description  "Type of the variant".

<http://fmi.com/schema/2017/property/variant/proteinEffect>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Protein Effect";
	disq:property  var:proteinEffect;
	disq:description  "Effect on the protein".

<http://fmi.com/schema/2017/property/variant/codon>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Codon";
	disq:property  var:codon;
	disq:description  "In which codon is the change?".

<http://fmi.com/schema/2017/property/variant/position>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Position";
	disq:property  var:position;
	disq:description  "Position in homo sapiens build 37".

<http://fmi.com/schema/2017/property/variant/alleleFrequency>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Allele Frequency";
	disq:property  var:alleleFrequency;
	disq:description  "The allele frequency of the observed variant".

<http://fmi.com/schema/2017/property/variant/totalDepth>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Total Depth";
	disq:property  var:totalDepth;
	disq:description  "Total depth at the position of the variant".

<http://fmi.com/schema/2017/property/variant/copyNumber>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Copy Number";
	disq:property  var:copyNumber;
	disq:description  "In the case the variat type is deletion or amplification, the observed number copies".

<http://fmi.com/schema/2017/property/variant/splitReadNumber>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Split Read Number";
	disq:property  var:splitReadNumber;
	disq:description  "In the case the variant type is rearrangement".

<http://fmi.com/schema/2017/property/variant/chromosome>
	a   disq:InstanceProperty;
	disq:relatedCanonicalType  ct:variant;
	rdfs:label  "Chromosome";
	disq:property  var:chromosome;
	disq:description  "The chromsome the variant is on".