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joerivandervelde committed Jan 24, 2022
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4 changes: 2 additions & 2 deletions fair-genomes.yml
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Expand Up @@ -466,8 +466,8 @@ modules:
description: Method used to determine the order of bases in a nucleic acid sequence.
ontology: FIX:0000704 [http://purl.obolibrary.org/obo/FIX_0000704]
values: LookupOne [lookups/SequencingMethods.txt], ofType [http://purl.obolibrary.org/obo/NCIT_C17565]
- name: Average read depth
description: The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.
- name: Median read depth
description: The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.
ontology: NCIT:C155320 [http://purl.obolibrary.org/obo/NCIT_C155320]
values: Integer
- name: Observed read length
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16 changes: 8 additions & 8 deletions generated/art-decor/fair-genomes_en-US.xml
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Expand Up @@ -715,20 +715,20 @@ href="http://art-decor.org/ADAR/rv/DECOR.sch" type="application/xml" schematypes
<name language="en-US">Sequencing</name>
<desc language="en-US">The determination of complete (typically nucleotide) sequences, including those of genomes (full genome sequencing, de novo sequencing and resequencing), amplicons and transcriptomes.</desc>
<property name="url">http://edamontology.org/topic_3168</property>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.101" statusCode="draft" effectiveDate="2021-07-20T24:00:00" type="item">
<name language="en-US">Average read depth</name>
<desc language="en-US">The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.</desc>
<property name="url">http://purl.obolibrary.org/obo/NCIT_C155320</property>
<valueDomain type="count">
</valueDomain>
</concept>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.96" statusCode="draft" effectiveDate="2021-07-20T24:00:00" type="item">
<name language="en-US">Belongs to sample</name>
<desc language="en-US">Reference to the prepared sample, i.e. the source that was sequenced.</desc>
<property name="url">http://purl.obolibrary.org/obo/NCIT_C25683</property>
<valueDomain type="string">
</valueDomain>
</concept>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.101" statusCode="draft" effectiveDate="2021-07-20T24:00:00" type="item">
<name language="en-US">Median read depth</name>
<desc language="en-US">The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.</desc>
<property name="url">http://purl.obolibrary.org/obo/NCIT_C155320</property>
<valueDomain type="count">
</valueDomain>
</concept>
<concept id="2.16.840.1.113883.2.4.3.11.60.120.2.103" statusCode="draft" effectiveDate="2021-07-20T24:00:00" type="item">
<name language="en-US">Observed insert size</name>
<desc language="en-US">In paired-end sequencing, the DNA between the adapter sequences is the insert. The length of this sequence is known as the insert size, not to be confused with the inner distance between reads. So, fragment length equals read adapter length (2x) plus insert size, and insert size equals read lenght (2x) plus inner distance.</desc>
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<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.98" conceptFlexibility="2021-07-20T24:00:00" code="0000071" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.7" codeSystemName="GENEPIO" displayName="Sequencing platform" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.99" conceptFlexibility="2021-07-20T24:00:00" code="0001921" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.7" codeSystemName="GENEPIO" displayName="Sequencing instrument model" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.100" conceptFlexibility="2021-07-20T24:00:00" code="0000704" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.33" codeSystemName="FIX" displayName="Sequencing method" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.101" conceptFlexibility="2021-07-20T24:00:00" code="C155320" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Average read depth" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.101" conceptFlexibility="2021-07-20T24:00:00" code="C155320" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Median read depth" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.102" conceptFlexibility="2021-07-20T24:00:00" code="C153362" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.0" codeSystemName="NCIT" displayName="Observed read length" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.103" conceptFlexibility="2021-07-20T24:00:00" code="0000002" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.9" codeSystemName="FG" displayName="Observed insert size" effectiveDate="2021-07-20T24:00:00"/>
<terminologyAssociation conceptId="2.16.840.1.113883.2.4.3.11.60.120.2.104" conceptFlexibility="2021-07-20T24:00:00" code="0000089" codeSystem="2.16.840.1.113883.2.4.3.11.60.120.5.7" codeSystemName="GENEPIO" displayName="Percentage Q30" effectiveDate="2021-07-20T24:00:00"/>
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2 changes: 1 addition & 1 deletion generated/java/org/fairgenomes/generated/Sequencing.java
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Expand Up @@ -9,7 +9,7 @@ public class Sequencing {
public String sequencingplatform;
public String sequencinginstrumentmodel;
public String sequencingmethod;
public int averagereaddepth;
public int medianreaddepth;
public int observedreadlength;
public int observedinsertsize;
public double percentageq30;
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2 changes: 1 addition & 1 deletion generated/latex/fair-genomes.tex
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Expand Up @@ -186,7 +186,7 @@
Sequencing platform & GENEPIO:0000071 & SequencingPlatform lookup (7 choices) \\
Sequencing instrument model & GENEPIO:0001921 & SequencingInstrumentModels lookup (39 choices) \\
Sequencing method & FIX:0000704 & SequencingMethods lookup (35 choices) \\
Average read depth & NCIT:C155320 & Integer \\
Median read depth & NCIT:C155320 & Integer \\
Observed read length & NCIT:C153362 & Integer \\
Observed insert size & FG:0000002 & Integer \\
Percentage Q30 & GENEPIO:0000089 & Decimal \\
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2 changes: 1 addition & 1 deletion generated/markdown/fairgenomes-semantic-model.md
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Expand Up @@ -156,7 +156,7 @@ The determination of complete (typically nucleotide) sequences, including those
| Sequencing platform | The used sequencing platform (i.e. brand, name of a company that produces sequencer equipment). | [GENEPIO:0000071](http://purl.obolibrary.org/obo/GENEPIO_0000071) | [SequencingPlatform](../../lookups/SequencingPlatform.txt) lookup (7 choices [of type](http://purl.obolibrary.org/obo/GENEPIO_0000071)) |
| Sequencing instrument model | The used product name and model number of a manufacturer's genomic (dna) sequencer. | [GENEPIO:0001921](http://purl.obolibrary.org/obo/GENEPIO_0001921) | [SequencingInstrumentModels](../../lookups/SequencingInstrumentModels.txt) lookup (39 choices [of type](http://purl.obolibrary.org/obo/GENEPIO_0001921)) |
| Sequencing method | Method used to determine the order of bases in a nucleic acid sequence. | [FIX:0000704](http://purl.obolibrary.org/obo/FIX_0000704) | [SequencingMethods](../../lookups/SequencingMethods.txt) lookup (35 choices [of type](http://purl.obolibrary.org/obo/NCIT_C17565)) |
| Average read depth | The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. | [NCIT:C155320](http://purl.obolibrary.org/obo/NCIT_C155320) | Integer |
| Median read depth | The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. | [NCIT:C155320](http://purl.obolibrary.org/obo/NCIT_C155320) | Integer |
| Observed read length | The number of nucleotides successfully ordered from each side of a nucleic acid fragment obtained after the completion of a sequencing process. | [NCIT:C153362](http://purl.obolibrary.org/obo/NCIT_C153362) | Integer |
| Observed insert size | In paired-end sequencing, the DNA between the adapter sequences is the insert. The length of this sequence is known as the insert size, not to be confused with the inner distance between reads. So, fragment length equals read adapter length (2x) plus insert size, and insert size equals read lenght (2x) plus inner distance. | [FG:0000002](https://w3id.org/fair-genomes/resource/FG_0000002) | Integer |
| Percentage Q30 | Percentage of reads with a Phred quality score over 30, which indicates less than a 1/1000 chance that the base was called incorrectly. | [GENEPIO:0000089](http://purl.obolibrary.org/obo/GENEPIO_0000089) | Decimal |
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2 changes: 1 addition & 1 deletion generated/molgenis-emx/sequencing_attributes.tsv
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Expand Up @@ -5,7 +5,7 @@ sequencingdate Sequencing date Date on which this sequencing assay was performed
sequencingplatform Sequencing platform The used sequencing platform (i.e. brand, name of a company that produces sequencer equipment). (GENEPIO:0000071) sequencing xref FALSE FALSE TRUE TRUE fair-genomes_sequencing_sequencingplatform
sequencinginstrumentmodel Sequencing instrument model The used product name and model number of a manufacturer's genomic (dna) sequencer. (GENEPIO:0001921) sequencing xref FALSE FALSE TRUE TRUE fair-genomes_sequencing_sequencinginstrumentmodel
sequencingmethod Sequencing method Method used to determine the order of bases in a nucleic acid sequence. (FIX:0000704) sequencing xref FALSE FALSE TRUE TRUE fair-genomes_sequencing_sequencingmethod
averagereaddepth Average read depth The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. (NCIT:C155320) sequencing int FALSE FALSE TRUE TRUE
medianreaddepth Median read depth The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. (NCIT:C155320) sequencing int FALSE FALSE TRUE TRUE
observedreadlength Observed read length The number of nucleotides successfully ordered from each side of a nucleic acid fragment obtained after the completion of a sequencing process. (NCIT:C153362) sequencing int FALSE FALSE TRUE TRUE
observedinsertsize Observed insert size In paired-end sequencing, the DNA between the adapter sequences is the insert. The length of this sequence is known as the insert size, not to be confused with the inner distance between reads. So, fragment length equals read adapter length (2x) plus insert size, and insert size equals read lenght (2x) plus inner distance. (FG:0000002) sequencing int FALSE FALSE TRUE TRUE
percentageq30 Percentage Q30 Percentage of reads with a Phred quality score over 30, which indicates less than a 1/1000 chance that the base was called incorrectly. (GENEPIO:0000089) sequencing decimal FALSE FALSE TRUE TRUE
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2 changes: 1 addition & 1 deletion generated/molgenis-emx2/molgenis.csv
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Expand Up @@ -310,7 +310,7 @@ sequencing,sequencingdate,date,,,,"Date on which this sequencing assay was perfo
sequencing,sequencingplatform,ref,,,sequencingplatform,"The used sequencing platform (i.e. brand, name of a company that produces sequencer equipment).",http://purl.obolibrary.org/obo/GENEPIO_0000071
sequencing,sequencinginstrumentmodel,ref,,,sequencinginstrumentmodel,"The used product name and model number of a manufacturer's genomic (dna) sequencer.",http://purl.obolibrary.org/obo/GENEPIO_0001921
sequencing,sequencingmethod,ref,,,sequencingmethod,"Method used to determine the order of bases in a nucleic acid sequence.",http://purl.obolibrary.org/obo/FIX_0000704
sequencing,averagereaddepth,int,,,,"The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.",http://purl.obolibrary.org/obo/NCIT_C155320
sequencing,medianreaddepth,int,,,,"The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced.",http://purl.obolibrary.org/obo/NCIT_C155320
sequencing,observedreadlength,int,,,,"The number of nucleotides successfully ordered from each side of a nucleic acid fragment obtained after the completion of a sequencing process.",http://purl.obolibrary.org/obo/NCIT_C153362
sequencing,observedinsertsize,int,,,,"In paired-end sequencing, the DNA between the adapter sequences is the insert. The length of this sequence is known as the insert size, not to be confused with the inner distance between reads. So, fragment length equals read adapter length (2x) plus insert size, and insert size equals read lenght (2x) plus inner distance.",https://w3id.org/fair-genomes/resource/FG_0000002
sequencing,percentageq30,decimal,,,,"Percentage of reads with a Phred quality score over 30, which indicates less than a 1/1000 chance that the base was called incorrectly.",http://purl.obolibrary.org/obo/GENEPIO_0000089
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6 changes: 3 additions & 3 deletions generated/ontology/fair-genomes.ttl
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Expand Up @@ -688,11 +688,11 @@ fg:Sequencing_Sequencing_method a owl:ObjectProperty;
dc:description "Method used to determine the order of bases in a nucleic acid sequence.";
rdfs:range obo:NCIT_C17565 .

fg:Sequencing_Average_read_depth a owl:DatatypeProperty;
rdfs:label "Average read depth";
fg:Sequencing_Median_read_depth a owl:DatatypeProperty;
rdfs:label "Median read depth";
rdfs:domain fg:Sequencing;
rdfs:isDefinedBy obo:NCIT_C155320;
dc:description "The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced." .
dc:description "The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced." .

fg:Sequencing_Observed_read_length a owl:DatatypeProperty;
rdfs:label "Observed read length";
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2 changes: 1 addition & 1 deletion generated/palga-codebook/CODEBOOK.tsv
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Expand Up @@ -100,7 +100,7 @@ Sequencing date Date on which this sequencing assay was performed. GENEPIO 00000
Sequencing platform The used sequencing platform (i.e. brand, name of a company that produces sequencer equipment). GENEPIO 0000071 ST Sequencing platform SequencingPlatform single-select {url=http://purl.obolibrary.org/obo/GENEPIO_0000071} Sequencing
Sequencing instrument model The used product name and model number of a manufacturer's genomic (dna) sequencer. GENEPIO 0001921 ST Sequencing instrument model SequencingInstrumentModels single-select {url=http://purl.obolibrary.org/obo/GENEPIO_0001921} Sequencing
Sequencing method Method used to determine the order of bases in a nucleic acid sequence. FIX 0000704 ST Sequencing method SequencingMethods single-select {url=http://purl.obolibrary.org/obo/FIX_0000704} Sequencing
Average read depth The average number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. NCIT C155320 INT Average read depth text {url=http://purl.obolibrary.org/obo/NCIT_C155320} Sequencing
Median read depth The median number of times a particular locus (site, nucleotide, amplicon, region) was sequenced. NCIT C155320 INT Median read depth text {url=http://purl.obolibrary.org/obo/NCIT_C155320} Sequencing
Observed read length The number of nucleotides successfully ordered from each side of a nucleic acid fragment obtained after the completion of a sequencing process. NCIT C153362 INT Observed read length text {url=http://purl.obolibrary.org/obo/NCIT_C153362} Sequencing
Observed insert size In paired-end sequencing, the DNA between the adapter sequences is the insert. The length of this sequence is known as the insert size, not to be confused with the inner distance between reads. So, fragment length equals read adapter length (2x) plus insert size, and insert size equals read lenght (2x) plus inner distance. FG 0000002 INT Observed insert size text {url=https://w3id.org/fair-genomes/resource/FG_0000002} Sequencing
Percentage Q30 Percentage of reads with a Phred quality score over 30, which indicates less than a 1/1000 chance that the base was called incorrectly. GENEPIO 0000089 DECIMAL Percentage Q30 text {url=http://purl.obolibrary.org/obo/GENEPIO_0000089} Sequencing
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