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Custom ontologies for HMD submissions
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joerivandervelde committed Feb 14, 2025
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6 changes: 3 additions & 3 deletions fair-genomes.yml
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Expand Up @@ -577,7 +577,7 @@ modules:
values: String
- name: HMD Submission
description: Items specific to use in the 1+MG GDI project for metadata submission.
ontology: AFRL:0000449 [http://purl.allotrope.org/ontologies/role#AFRL_0000449]
ontology: FG:0000750 [https://w3id.org/fair-genomes/resource/FG_0000750]
elements:
- name: Submitter Role
description: Role of the Submitter (e.g. Oncologist in charge of the patient, Research Project PI).
Expand All @@ -604,8 +604,8 @@ modules:
ontology: MS:1001922 [http://purl.obolibrary.org/obo/MS_1001922]
values: String
- name: Collection
description: Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of.
ontology: DCAT:Collection [http://www.w3.org/ns/prov#Collection]
description: Here goes the description
ontology: FG:0000751 [https://w3id.org/fair-genomes/resource/FG_0000751]
values: String
- name: Research Consortia
description: Identifies Research Consortia Involved.
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10 changes: 5 additions & 5 deletions generated/art-decor/fair-genomes_en-US.xml
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Expand Up @@ -256,7 +256,7 @@ href="http://art-decor.org/ADAR/rv/DECOR.sch" type="application/xml" schematypes
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.121" statusCode="draft" effectiveDate="2022-02-28T24:00:00" type="group">
<name language="en-US">HMD Submission</name>
<desc language="en-US">Items specific to use in the 1+MG GDI project for metadata submission.</desc>
<property name="url">http://purl.allotrope.org/ontologies/role#AFRL_0000449</property>
<property name="url">https://w3id.org/fair-genomes/resource/FG_0000750</property>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.124" statusCode="draft" effectiveDate="2022-02-28T24:00:00" type="item">
<name language="en-US">Clinical Center</name>
<desc language="en-US">Refers to the Clinical Department in charge of the patient.</desc>
Expand All @@ -266,8 +266,8 @@ href="http://art-decor.org/ADAR/rv/DECOR.sch" type="application/xml" schematypes
</concept>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.128" statusCode="draft" effectiveDate="2022-02-28T24:00:00" type="item">
<name language="en-US">Collection</name>
<desc language="en-US">Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of.</desc>
<property name="url">http://www.w3.org/ns/prov#Collection</property>
<desc language="en-US">Here goes the description</desc>
<property name="url">https://w3id.org/fair-genomes/resource/FG_0000751</property>
<valueDomain type="string">
</valueDomain>
</concept>
Expand Down Expand Up @@ -1155,14 +1155,14 @@ href="http://art-decor.org/ADAR/rv/DECOR.sch" type="application/xml" schematypes
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.118" conceptFlexibility="2022-02-28T24:00:00" code="C50996" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Bioinformatic protocol deviation" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.119" conceptFlexibility="2022-02-28T24:00:00" code="C93529" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Reason for bioinformatic protocol deviation" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.120" conceptFlexibility="2022-02-28T24:00:00" code="C17564" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="WGS guideline followed" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.121" conceptFlexibility="2022-02-28T24:00:00" code="0000449" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.32" codeSystemName="AFRL" displayName="HMD Submission" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.121" conceptFlexibility="2022-02-28T24:00:00" code="0000750" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.12" codeSystemName="FG" displayName="HMD Submission" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.122" conceptFlexibility="2022-02-28T24:00:00" code="Role" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.39" codeSystemName="DCAT" displayName="Submitter Role" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.123" conceptFlexibility="2022-02-28T24:00:00" code="Identifier" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.40" codeSystemName="ADMS" displayName="Data Center" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.124" conceptFlexibility="2022-02-28T24:00:00" code="Identifier" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.40" codeSystemName="ADMS" displayName="Clinical Center" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.125" conceptFlexibility="2022-02-28T24:00:00" code="000688" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.19" codeSystemName="SIO" displayName="Institution Clinical" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.126" conceptFlexibility="2022-02-28T24:00:00" code="000688" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.19" codeSystemName="SIO" displayName="Institution Data Center" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.127" conceptFlexibility="2022-02-28T24:00:00" code="1001922" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.41" codeSystemName="MS" displayName="Publication description" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.128" conceptFlexibility="2022-02-28T24:00:00" code="Collection" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.39" codeSystemName="DCAT" displayName="Collection" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.128" conceptFlexibility="2022-02-28T24:00:00" code="0000751" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.12" codeSystemName="FG" displayName="Collection" effectiveDate="2022-02-28T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.129" conceptFlexibility="2022-02-28T24:00:00" code="C61538" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Research Consortia" effectiveDate="2022-02-28T24:00:00"/>
<codeSystem ref="2.16.840.1.113883.6.96" name="SNOMED_CT" displayName="SNOMED CT"/>
<codeSystem ref="2.16.840.1.113883.5.1008" name="NullFlavor" displayName="NullFlavor"/>
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6 changes: 3 additions & 3 deletions generated/latex/fair-genomes.tex
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Expand Up @@ -21,7 +21,7 @@
Sample preparation & OBI:0001902 & 9 \\
Sequencing & EDAM:topic\_3168 & 12 \\
Analysis & EDAM:operation\_2945 & 11 \\
HMD Submission & AFRL:0000449 & 8 \\
HMD Submission & FG:0000750 & 8 \\
\hline
\end{tabular}
\caption[Module overview]{\label{table:table1} FAIR Genomes metadata schema v1.3-SNAPSHOT overview of all modules.}
Expand Down Expand Up @@ -230,11 +230,11 @@
Institution Clinical & SIO:000688 & Institutes lookup (219 choices) \\
Institution Data Center & SIO:000688 & Institutes lookup (219 choices) \\
Publication description & MS:1001922 & String \\
Collection & DCAT:Collection & String \\
Collection & FG:0000751 & String \\
Research Consortia & NCIT:C61538 & String \\
\hline
\end{tabular}
\caption[Module: HMD Submission]{\label{table:table11} Module: HMD Submission. Items specific to use in the 1+MG GDI project for metadata submission. Ontology: AFRL:0000449. }
\caption[Module: HMD Submission]{\label{table:table11} Module: HMD Submission. Items specific to use in the 1+MG GDI project for metadata submission. Ontology: FG:0000750. }
\end{table}

\begin{table}[htb]
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6 changes: 3 additions & 3 deletions generated/markdown/fairgenomes-semantic-model.md
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Expand Up @@ -15,7 +15,7 @@ The FAIR Genomes semantic metadata schema to power reuse of NGS data in research
| [Sample preparation](#module-sample-preparation) | A sample preparation for a nucleic acids sequencing assay. | [OBI:0001902](http://purl.obolibrary.org/obo/OBI_0001902) | 9 |
| [Sequencing](#module-sequencing) | The determination of complete (typically nucleotide) sequences, including those of genomes (full genome sequencing, de novo sequencing and resequencing), amplicons and transcriptomes. | [EDAM:topic_3168](http://edamontology.org/topic_3168) | 12 |
| [Analysis](#module-analysis) | An analysis applies analytical (often computational) methods to existing data of a specific type to produce some desired output. | [EDAM:operation_2945](http://edamontology.org/operation_2945) | 11 |
| [HMD Submission](#module-hmd-submission) | Items specific to use in the 1+MG GDI project for metadata submission. | [AFRL:0000449](http://purl.allotrope.org/ontologies/role#AFRL_0000449) | 8 |
| [HMD Submission](#module-hmd-submission) | Items specific to use in the 1+MG GDI project for metadata submission. | [FG:0000750](https://w3id.org/fair-genomes/resource/FG_0000750) | 8 |

## Module: Study
A detailed examination, analysis, or critical inspection of one or multiple subjects designed to discover facts. Ontology: [NCIT:C63536](http://purl.obolibrary.org/obo/NCIT_C63536).
Expand Down Expand Up @@ -184,7 +184,7 @@ An analysis applies analytical (often computational) methods to existing data of
| WGS guideline followed | Any followed systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels. | [NCIT:C17564](http://purl.obolibrary.org/obo/NCIT_C17564) | String |

## Module: HMD Submission
Items specific to use in the 1+MG GDI project for metadata submission. Ontology: [AFRL:0000449](http://purl.allotrope.org/ontologies/role#AFRL_0000449).
Items specific to use in the 1+MG GDI project for metadata submission. Ontology: [FG:0000750](https://w3id.org/fair-genomes/resource/FG_0000750).

| Element | Description | Ontology | Values |
|---|---|---|---|
Expand All @@ -194,7 +194,7 @@ Items specific to use in the 1+MG GDI project for metadata submission. Ontology:
| Institution Clinical | Identifies the Institution/s involved. | [SIO:000688](http://semanticscience.org/resource/SIO_000688) | [Institutes](../../lookups/Institutes.txt) lookup (219 choices [of type](http://semanticscience.org/resource/SIO_000688)) |
| Institution Data Center | Identifies the Institution/s involved. | [SIO:000688](http://semanticscience.org/resource/SIO_000688) | [Institutes](../../lookups/Institutes.txt) lookup (219 choices [of type](http://semanticscience.org/resource/SIO_000688)) |
| Publication description | Linked to the instance of publication_doi; should provide a human-readably description of the publication. | [MS:1001922](http://purl.obolibrary.org/obo/MS_1001922) | String |
| Collection | Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of. | [DCAT:Collection](http://www.w3.org/ns/prov#Collection) | String |
| Collection | Here goes the description | [FG:0000751](https://w3id.org/fair-genomes/resource/FG_0000751) | String |
| Research Consortia | Identifies Research Consortia Involved. | [NCIT:C61538](http://purl.obolibrary.org/obo/NCIT_C61538) | String |

## Null flavors
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2 changes: 1 addition & 1 deletion generated/molgenis-emx/HmdSubmission_attributes.tsv
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Expand Up @@ -5,5 +5,5 @@ ClinicalCenter Clinical Center Refers to the Clinical Department in charge of th
InstitutionClinical Institution Clinical Identifies the Institution/s involved. (SIO:000688) HmdSubmission mref FALSE FALSE TRUE TRUE fair-genomes_HmdSubmission_InstitutionClinical
InstitutionDataCenter Institution Data Center Identifies the Institution/s involved. (SIO:000688) HmdSubmission mref FALSE FALSE TRUE TRUE fair-genomes_HmdSubmission_InstitutionDataCenter
PublicationDescription Publication description Linked to the instance of publication_doi; should provide a human-readably description of the publication. (MS:1001922) HmdSubmission string FALSE FALSE TRUE TRUE
Collection Collection Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of. (DCAT:Collection) HmdSubmission string FALSE FALSE TRUE TRUE
Collection Collection Here goes the description (FG:0000751) HmdSubmission string FALSE FALSE TRUE TRUE
ResearchConsortia Research Consortia Identifies Research Consortia Involved. (NCIT:C61538) HmdSubmission string FALSE FALSE TRUE TRUE
4 changes: 2 additions & 2 deletions generated/molgenis-emx2/molgenis.csv
Original file line number Diff line number Diff line change
Expand Up @@ -120,12 +120,12 @@ tableName,tableExtends,columnName,columnType,key,required,refSchema,refTable,ref
"Analysis","","BioinformaticProtocolDeviation","string","","","","","","","","http://purl.obolibrary.org/obo/NCIT_C50996","A variation from processes or procedures defined in the bioinformatic protocol. Deviations usually do not preclude the overall evaluability of subject data for either efficacy or safety, and are often acknowledged and accepted in advance by the sponsor.","FAIR Genomes"
"Analysis","","ReasonForBioinformaticProtocolDeviation","string","","","","","","","","http://purl.obolibrary.org/obo/NCIT_C93529","The rationale for why a deviation from the bioinformatic protocol has occurred.","FAIR Genomes"
"Analysis","","WgsGuidelineFollowed","string","","","","","","","","http://purl.obolibrary.org/obo/NCIT_C17564","Any followed systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels.","FAIR Genomes"
"HmdSubmission","","","","","","","","","","","http://purl.allotrope.org/ontologies/role#AFRL_0000449","Items specific to use in the 1+MG GDI project for metadata submission.","FAIR Genomes"
"HmdSubmission","","","","","","","","","","","https://w3id.org/fair-genomes/resource/FG_0000750","Items specific to use in the 1+MG GDI project for metadata submission.","FAIR Genomes"
"HmdSubmission","","SubmitterRole","string","","","","","","","","https://www.w3.org/ns/dcat#Role","Role of the Submitter (e.g. Oncologist in charge of the patient, Research Project PI).","FAIR Genomes"
"HmdSubmission","","DataCenter","string","","","","","","","","https://www.w3.org/TR/vocab-adms/#identifier","Refers to the Department in charge of Data Production and/ or analysis","FAIR Genomes"
"HmdSubmission","","ClinicalCenter","string","","","","","","","","https://www.w3.org/TR/vocab-adms/#identifier","Refers to the Clinical Department in charge of the patient.","FAIR Genomes"
"HmdSubmission","","InstitutionClinical","ontology_array","","","","InstitutionClinical","","","","http://semanticscience.org/resource/SIO_000688","Identifies the Institution/s involved.","FAIR Genomes"
"HmdSubmission","","InstitutionDataCenter","ontology_array","","","","InstitutionDataCenter","","","","http://semanticscience.org/resource/SIO_000688","Identifies the Institution/s involved.","FAIR Genomes"
"HmdSubmission","","PublicationDescription","string","","","","","","","","http://purl.obolibrary.org/obo/MS_1001922","Linked to the instance of publication_doi; should provide a human-readably description of the publication.","FAIR Genomes"
"HmdSubmission","","Collection","string","","","","","","","","http://www.w3.org/ns/prov#Collection","Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of.","FAIR Genomes"
"HmdSubmission","","Collection","string","","","","","","","","https://w3id.org/fair-genomes/resource/FG_0000751","Here goes the description","FAIR Genomes"
"HmdSubmission","","ResearchConsortia","string","","","","","","","","http://purl.obolibrary.org/obo/NCIT_C61538","Identifies Research Consortia Involved.","FAIR Genomes"
6 changes: 3 additions & 3 deletions generated/ontology/fair-genomes.ttl
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Expand Up @@ -828,7 +828,7 @@ fg:Analysis_WGS_guideline_followed a owl:DatatypeProperty;
dc:description "Any followed systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels." .

fg:HMD_Submission a owl:Class;
rdfs:isDefinedBy <http://purl.allotrope.org/ontologies/role#AFRL_0000449>;
rdfs:isDefinedBy <https://w3id.org/fair-genomes/resource/FG_0000750>;
rdfs:label "HMD Submission";
dc:description "Items specific to use in the 1+MG GDI project for metadata submission." .

Expand Down Expand Up @@ -873,8 +873,8 @@ fg:HMD_Submission_Publication_description a owl:DatatypeProperty;
fg:HMD_Submission_Collection a owl:DatatypeProperty;
rdfs:label "Collection";
rdfs:domain fg:HMD_Submission;
rdfs:isDefinedBy <http://www.w3.org/ns/prov#Collection>;
dc:description "Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of." .
rdfs:isDefinedBy <https://w3id.org/fair-genomes/resource/FG_0000751>;
dc:description "Here goes the description" .

fg:HMD_Submission_Research_Consortia a owl:DatatypeProperty;
rdfs:label "Research Consortia";
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4 changes: 2 additions & 2 deletions generated/palga-codebook/CODEBOOK.tsv
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Expand Up @@ -120,12 +120,12 @@ Bioinformatic protocol used A human-readable collection of information about abo
Bioinformatic protocol deviation A variation from processes or procedures defined in the bioinformatic protocol. Deviations usually do not preclude the overall evaluability of subject data for either efficacy or safety, and are often acknowledged and accepted in advance by the sponsor. NCIT C50996 ST Bioinformatic protocol deviation text {url=http://purl.obolibrary.org/obo/NCIT_C50996} Analysis
Reason for bioinformatic protocol deviation The rationale for why a deviation from the bioinformatic protocol has occurred. NCIT C93529 ST Reason for bioinformatic protocol deviation text {url=http://purl.obolibrary.org/obo/NCIT_C93529} Analysis
WGS guideline followed Any followed systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels. NCIT C17564 ST WGS guideline followed text {url=http://purl.obolibrary.org/obo/NCIT_C17564} Analysis
HMD Submission Items specific to use in the 1+MG GDI project for metadata submission. AFRL 0000449 ST HMD Submission multi-select {url=http://purl.allotrope.org/ontologies/role#AFRL_0000449}
HMD Submission Items specific to use in the 1+MG GDI project for metadata submission. FG 0000750 ST HMD Submission multi-select {url=https://w3id.org/fair-genomes/resource/FG_0000750}
Submitter Role Role of the Submitter (e.g. Oncologist in charge of the patient, Research Project PI). DCAT Role ST Submitter Role text {url=https://www.w3.org/ns/dcat#Role} HMD Submission
Data Center Refers to the Department in charge of Data Production and/ or analysis ADMS Identifier ST Data Center text {url=https://www.w3.org/TR/vocab-adms/#identifier} HMD Submission
Clinical Center Refers to the Clinical Department in charge of the patient. ADMS Identifier ST Clinical Center text {url=https://www.w3.org/TR/vocab-adms/#identifier} HMD Submission
Institution Clinical Identifies the Institution/s involved. SIO 000688 ST Institution Clinical Institutes multi-select {url=http://semanticscience.org/resource/SIO_000688} HMD Submission
Institution Data Center Identifies the Institution/s involved. SIO 000688 ST Institution Data Center Institutes multi-select {url=http://semanticscience.org/resource/SIO_000688} HMD Submission
Publication description Linked to the instance of publication_doi; should provide a human-readably description of the publication. MS 1001922 ST Publication description text {url=http://purl.obolibrary.org/obo/MS_1001922} HMD Submission
Collection Identifies collection (Biobank, Collection, Cohort, other types of projects) in which data are part of. DCAT Collection ST Collection text {url=http://www.w3.org/ns/prov#Collection} HMD Submission
Collection Here goes the description FG 0000751 ST Collection text {url=https://w3id.org/fair-genomes/resource/FG_0000751} HMD Submission
Research Consortia Identifies Research Consortia Involved. NCIT C61538 ST Research Consortia text {url=http://purl.obolibrary.org/obo/NCIT_C61538} HMD Submission
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