HG00096_meta.json

{"biosamples": [{"biosampleStatus": {"id": "EFO:0009654", "label": "reference sample"}, "externalReferences": [{"id": "biosample:SAME123268", "label": "1000 genomes sample from EUR population"}, {"id": "PMID:20981092", "label": "1000 Genomes Project Consortium (2010): A map of human genome variation from population-scale sequencing."}], "files": [{"fileAttributes": {"fileFormat": "VCF", "genomeAssembly": "GRCh38"}, "uri": "https://progenetix.org/services/vcfvariants/onekgbs-HG00320"}], "histologicalDiagnosis": {"id": "NCIT:C132256", "label": "Unspecified Tissue"}, "id": "onekgbs-HG00320", "individualId": "onekgind-HG00320", "notes": "1000 genomes sample", "pathologicalStage": {"id": null, "label": null}, "sampleOriginDetail": {"id": "UBERON:0000178", "label": "blood"}, "tumorGrade": {"id": null, "label": null}, "updated": "2022-05-13 09:13:08.050000"}], "id": "HG00096", "metaData": {"phenopacketSchemaVersion": "v2", "resources": [{"id": "NCIT", "iriPrefix": "http://purl.obolibrary.org/obo/NCIT_", "name": "NCIt Plus Neoplasm Core", "namespacePrefix": "NCIT", "url": "http://purl.obolibrary.org/obo/ncit/neoplasm-core.owl", "version": "2022-04-01"}, {"id": "PATOsex", "iriPrefix": "http://purl.obolibrary.org/obo/PATO_", "name": "Phenotypic Qualities Ontology", "namespacePrefix": "PATO", "url": "https://github.com/pato-ontology/pato/", "version": "2022-04-01"}, {"id": "EFOfus", "iriPrefix": "http://purl.obolibrary.org/obo/EFO_", "name": "Experimental Factor Ontology", "namespacePrefix": "EFO", "url": "http://www.ebi.ac.uk/efo/EFO_0030038", "version": "2022-04-01"}, {"id": "UBERON", "iriPrefix": "http://purl.obolibrary.org/obo/UBERON_", "name": "Uberon cross-species anatomical structures ontology", "namespacePrefix": "UBERON", "url": "http://uberon.org", "version": "2022-04-01"}], "submittedBy": "@ziying"}, "subject": {"diseases": [], "id": "onekgind-HG00096", "sex": {"id": "PATO:0020001", "label": "male genotypic sex"}, "updated": "2022-05-13 09:13:08.050000"}, "individual_id": "onekgind-HG00096"}