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Diagnostic genetic tests #669

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merged 8 commits into from
Jul 25, 2024
Merged

Diagnostic genetic tests #669

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400ab39
add karyotyping
Jul 25, 2024
85e205b
add chromosomal microarray testing
Jul 25, 2024
d5356a2
add targeted gene sequencing
Jul 25, 2024
55c3c39
add single gene testing
Jul 25, 2024
6b83809
add gene panel testing
Jul 25, 2024
3f3aa0b
add methylation testing
Jul 25, 2024
c07bfaa
add genome and exome sequencing close #622
Jul 25, 2024
8b557fe
remove duplicate terms
Jul 25, 2024
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59 changes: 58 additions & 1 deletion src/ontology/maxo-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -993,6 +993,12 @@ Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001607>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001608>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001609>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001610>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001611>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001612>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001613>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001614>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001615>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001616>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009003>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009004>))
Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009005>))
Expand Down Expand Up @@ -11499,6 +11505,57 @@ AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynony
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001610> "transcranial magnetic stimulation")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001610> <http://purl.obolibrary.org/obo/MAXO_0000943>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001611> (karyotyping)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001611> "Examining chromosomes to identify abnormalities.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001611> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001611> "2024-07-25T14:40:54Z"^^xsd:dateTime)
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001611> "karyotyping")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001611> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001612> (chromosomal microarray testing)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001612> "A genetic test that compares DNA sample to normal control to look for genetic alterations.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001612> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001612> "2024-07-25T14:42:43Z"^^xsd:dateTime)
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001612> "chromosomal microarray testing")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001612> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001613> (targeted gene sequencing)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001613> "Assessing specific variants within a gene or genes that thave been associated with a condition.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001613> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001613> "2024-07-25T14:44:33Z"^^xsd:dateTime)
AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/MAXO_0001613> "targeted genetic testing")
AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/MAXO_0001613> "targeted mutation analysis")
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001613> "targeted gene sequencing")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001613> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001614> (single gene testing)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001614> "Testing a single gene for genetic sequence changes.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001614> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001614> "2024-07-25T14:46:34Z"^^xsd:dateTime)
AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/MAXO_0001614> "single gene sequencing")
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001614> "single gene testing")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001614> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001615> (gene panel testing)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001615> "A diagnostic procedure that analyzes multiple genes at once to idenify genetic variants associated with specific diseases or conditions.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001615> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001615> "2024-07-25T14:47:57Z"^^xsd:dateTime)
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001615> "gene panel testing")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001615> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0001616> (methylation testing)

AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001616> "Examination of methylation patheway genes.")
AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001616> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001616> "2024-07-25T15:20:29Z"^^xsd:dateTime)
AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001616> "methylation testing")
SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001616> <http://purl.obolibrary.org/obo/MAXO_0000127>)

# Class: <http://purl.obolibrary.org/obo/MAXO_0009003> (preimplantation genetic testing)

AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "NCBIBook:NBK5191") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0009003> "Genetic testing of one or more cells removed from early embryos conceived by in vitro fertilization and transferring to the mother's uterus only those embryos determined not to have the pathogenic variant(s)/chromosome anomaly(ies) of concern.")
Expand Down Expand Up @@ -12912,5 +12969,5 @@ AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/MAXO_0035122
AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0035123> "2023-04-11T12:00:00Z")
AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/MAXO_0035123> <https://orcid.org/0000-0002-0736-9199>)
AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/MAXO_0035123> <https://orcid.org/0000-0001-7941-2961>)
AnnotationAssertion(<http://purl.obolibrary.org/obo/maxo#ABBREVIATION> _:genid2147483652 "")
AnnotationAssertion(<http://purl.obolibrary.org/obo/maxo#ABBREVIATION> _:genid2147483653 "")
)
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