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Relax protobuf version in Python #393

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9 changes: 9 additions & 0 deletions python/data/v1/README.md
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# README

The files in this folder correspond to comprehensive, albeit medically invalid, phenopacket elements:
- phenopacket
- family, or
- cohort.

The content corresponds to the output of `TestData.V1.comprehensive*()` as of Oct 27th, 2022
(see [TestData](https://github.com/phenopackets/phenopacket-tools/blob/main/phenopacket-tools-test/src/main/java/org/phenopackets/phenopackettools/test/TestData.java) in phenopacket-tools).
251 changes: 251 additions & 0 deletions python/data/v1/cohort.json
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{
"id": "comprehensive-cohort-id",
"description": "A description of the example cohort.",
"members": [{
"id": "comprehensive-phenopacket-id",
"subject": {
"id": "14 year-old boy",
"alternateIds": ["boy", "patient", "proband"],
"dateOfBirth": "1970-01-02T10:17:36.000000100Z",
"ageAtCollection": {
"age": "P14Y"
},
"sex": "MALE",
"karyotypicSex": "XY",
"taxonomy": {
"id": "NCBITaxon:9606",
"label": "homo sapiens"
}
},
"phenotypicFeatures": [{
"type": {
"id": "HP:0001558",
"label": "Decreased fetal movement"
},
"classOfOnset": {
"id": "HP:0011461",
"label": "Fetal onset"
},
"evidence": [{
"evidenceCode": {
"id": "ECO:0000033",
"label": "author statement supported by traceable reference"
},
"reference": {
"id": "PMID:30808312",
"description": "COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report."
}
}]
}, {
"type": {
"id": "HP:0031910",
"label": "Abnormal cranial nerve physiology"
},
"negated": true,
"evidence": [{
"evidenceCode": {
"id": "ECO:0000033",
"label": "author statement supported by traceable reference"
},
"reference": {
"id": "PMID:30808312",
"description": "COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report."
}
}]
}, {
"type": {
"id": "HP:0011463",
"label": "Macroscopic hematuria"
},
"modifiers": [{
"id": "HP:0031796",
"label": "Recurrent"
}],
"ageOfOnset": {
"age": "P14Y"
},
"evidence": [{
"evidenceCode": {
"id": "ECO:0000033",
"label": "author statement supported by traceable reference"
},
"reference": {
"id": "PMID:30808312",
"description": "COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report."
}
}]
}, {
"type": {
"id": "HP:0001270",
"label": "Motor delay"
},
"severity": {
"id": "HP:0012825",
"label": "Mild"
},
"classOfOnset": {
"id": "HP:0011463",
"label": "Childhood onset"
}
}],
"biosamples": [{
"id": "biosample-id",
"individualId": "14 year-old boy",
"description": "Muscle biopsy of 14 year-old boy",
"sampledTissue": {
"id": "UBERON:0003403",
"label": "skin of forearm"
},
"taxonomy": {
"id": "NCBITaxon:9606",
"label": "homo sapiens"
},
"ageOfIndividualAtCollection": {
"age": "P14Y"
},
"histologicalDiagnosis": {
"id": "NCIT:C38757",
"label": "Negative Finding"
},
"tumorProgression": {
"id": "NCIT:C3677",
"label": "Benign Neoplasm"
},
"tumorGrade": {
"id": "NCIT:C28076",
"label": "Disease Grade Qualifier"
},
"diagnosticMarkers": [{
"id": "NCIT:C68748",
"label": "HER2/Neu Positive"
}]
}],
"genes": [{
"id": "HGNC1:3688",
"symbol": "FGFR1"
}],
"variants": [{
"hgvsAllele": {
"hgvs": "NM_001848.2:c.877G\u003eA"
},
"zygosity": {
"id": "GENO:0000135",
"label": "heterozygous"
}
}],
"diseases": [{
"term": {
"id": "OMIM:101600",
"label": "PFEIFFER SYNDROME"
},
"classOfOnset": {
"id": "HP:0003577",
"label": "Congenital onset"
}
}],
"htsFiles": [{
"uri": "file://data/genomes/P000001C",
"description": "Whole genome sequencing VCF output",
"htsFormat": "VCF",
"genomeAssembly": "GRCh38.p13",
"individualToSampleIdentifiers": {
"14 year-old boy": "P000001C"
}
}],
"metaData": {
"created": "2022-10-03T16:39:04.000123456Z",
"createdBy": "Peter R.",
"submittedBy": "PhenopacketLab",
"resources": [{
"id": "hp",
"name": "human phenotype ontology",
"url": "http://purl.obolibrary.org/obo/hp.owl",
"version": "2018-03-08",
"namespacePrefix": "HP",
"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
}, {
"id": "geno",
"name": "Genotype Ontology",
"url": "http://purl.obolibrary.org/obo/geno.owl",
"version": "19-03-2018",
"namespacePrefix": "GENO",
"iriPrefix": "http://purl.obolibrary.org/obo/GENO_"
}, {
"id": "pubmed",
"name": "PubMed",
"namespacePrefix": "PMID",
"iriPrefix": "https://www.ncbi.nlm.nih.gov/pubmed/"
}, {
"id": "ncit",
"name": "NCI Thesaurus",
"url": "http://purl.obolibrary.org/obo/ncit.owl",
"version": "20-03-2020",
"namespacePrefix": "NCIT",
"iriPrefix": "http://purl.obolibrary.org/obo/NCIT_"
}],
"phenopacketSchemaVersion": "1.0.0",
"externalReferences": [{
"id": "PMID:30808312",
"description": "COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report."
}]
}
}, {
"subject": {
"id": "MOTHER",
"sex": "FEMALE"
}
}, {
"subject": {
"id": "FATHER",
"sex": "MALE"
}
}],
"htsFiles": [{
"uri": "file://data/genomes/FAM000001",
"description": "Whole genome sequencing VCF output",
"htsFormat": "VCF",
"genomeAssembly": "GRCh38.p13",
"individualToSampleIdentifiers": {
"14 year-old boy": "P000001C",
"MOTHER": "P000001M",
"FATHER": "P000001F"
}
}],
"metaData": {
"created": "2022-10-03T16:39:04.000123456Z",
"createdBy": "Peter R.",
"submittedBy": "PhenopacketLab",
"resources": [{
"id": "hp",
"name": "human phenotype ontology",
"url": "http://purl.obolibrary.org/obo/hp.owl",
"version": "2018-03-08",
"namespacePrefix": "HP",
"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
}, {
"id": "geno",
"name": "Genotype Ontology",
"url": "http://purl.obolibrary.org/obo/geno.owl",
"version": "19-03-2018",
"namespacePrefix": "GENO",
"iriPrefix": "http://purl.obolibrary.org/obo/GENO_"
}, {
"id": "pubmed",
"name": "PubMed",
"namespacePrefix": "PMID",
"iriPrefix": "https://www.ncbi.nlm.nih.gov/pubmed/"
}, {
"id": "ncit",
"name": "NCI Thesaurus",
"url": "http://purl.obolibrary.org/obo/ncit.owl",
"version": "20-03-2020",
"namespacePrefix": "NCIT",
"iriPrefix": "http://purl.obolibrary.org/obo/NCIT_"
}],
"phenopacketSchemaVersion": "1.0.0",
"externalReferences": [{
"id": "PMID:30808312",
"description": "COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report."
}]
}
}
80 changes: 80 additions & 0 deletions python/data/v1/cohort.pb
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comprehensive-cohort-id$A description of the example cohort.ò
comprehensive-phenopacket-id\
14 year-old boyboypatientprobandÀÄd"
P14Y08B
NCBITaxon:9606 homo sapiensï&

HP:0001558Decreased fetal movementJ

HP:0011461 Fetal onsetR©
@
ECO:00000331author statement supported by traceable referencee
PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.ß/

HP:0031910!Abnormal cranial nerve physiologyR©
@
ECO:00000331author statement supported by traceable referencee
PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.ò#

HP:0011463Macroscopic hematuria*

HP:0031796 Recurrent2
P14YR©
@
ECO:00000331author statement supported by traceable referencee
PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.N

HP:0001270 Motor delay"

HP:0012825MildJ

HP:0011463Childhood onset"–
biosample-id14 year-old boy Muscle biopsy of 14 year-old boy"!
UBERON:0003403skin of forearm2
NCBITaxon:9606 homo sapiens:
P14YJ
NCIT:C38757Negative FindingR

NCIT:C3677Benign NeoplasmZ&
NCIT:C28076Disease Grade Qualifierb
NCIT:C68748HER2/Neu Positive*

HGNC1:3688FGFR126NM_001848.2:c.877G>A2
GENO:0000135 heterozygous:B

OMIM:101600PFEIFFER SYNDROME"

HP:0003577Congenital onsetBm
file://data/genomes/P000001C"Whole genome sequencing VCF output"
GRCh38.p13*
14 year-old boyP000001CJÁ

¨ ì™ÀÄPeter R.PhenopacketLab"y
hphuman phenotype ontology%http://purl.obolibrary.org/obo/hp.owl"
2018-03-08*HP2"http://purl.obolibrary.org/obo/HP_"z
genoGenotype Ontology'http://purl.obolibrary.org/obo/geno.owl"
19-03-2018*GENO2$http://purl.obolibrary.org/obo/GENO_"<
pubmedPubMed*PMID2$https://www.ncbi.nlm.nih.gov/pubmed/"v
ncitNCI Thesaurus'http://purl.obolibrary.org/obo/ncit.owl"
20-03-2020*NCIT2$http://purl.obolibrary.org/obo/NCIT_21.0.0:e
PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. 

MOTHER0 

FATHER0"–
file://data/genomes/FAM000001"Whole genome sequencing VCF output"
GRCh38.p13*
14 year-old boyP000001C*
MOTHERP000001M*
FATHERP000001F*Á

¨ ì™ÀÄPeter R.PhenopacketLab"y
hphuman phenotype ontology%http://purl.obolibrary.org/obo/hp.owl"
2018-03-08*HP2"http://purl.obolibrary.org/obo/HP_"z
genoGenotype Ontology'http://purl.obolibrary.org/obo/geno.owl"
19-03-2018*GENO2$http://purl.obolibrary.org/obo/GENO_"<
pubmedPubMed*PMID2$https://www.ncbi.nlm.nih.gov/pubmed/"v
ncitNCI Thesaurus'http://purl.obolibrary.org/obo/ncit.owl"
20-03-2020*NCIT2$http://purl.obolibrary.org/obo/NCIT_21.0.0:e
PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Expand Down
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