diff test-data/individuals.json @ 0:0a757835a745 draft

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
author iuc
date Sun, 01 Oct 2023 16:30:21 +0000
parents
children
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--- /dev/null	Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/individuals.json	Sun Oct 01 16:30:21 2023 +0000
@@ -0,0 +1,2141 @@
+[
+   {
+      "diseases" : [],
+      "id" : "P0007502",
+      "info" : {
+         "interpretation" : {
+            "diagnosis" : [],
+            "phenopacket" : {
+               "meta_data" : {
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+                  "resources" : [
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+                        "iriPrefix" : "http://purl.obolibrary.org/obo/HP_",
+                        "name" : "Human Phenotype Ontology",
+                        "namespacePrefix" : "HP",
+                        "url" : "http://purl.obolibrary.org/obo/hp.owl",
+                        "version" : "2020-12-07"
+                     },
+                     {
+                        "id" : "orphanet",
+                        "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_",
+                        "name" : "Orphanet Rare Disease Ontology",
+                        "namespacePrefix" : "Orphanet",
+                        "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl",
+                        "version" : "3.1"
+                     },
+                     {
+                        "id" : "hgnc",
+                        "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/",
+                        "name" : "HUGO Gene Nomenclature Committee",
+                        "namespacePrefix" : "HGNC",
+                        "url" : "https://www.genenames.org",
+                        "version" : "2021-01-13"
+                     },
+                     {
+                        "id" : "mim",
+                        "iriPrefix" : "https://omim.org/entry/",
+                        "name" : "Online Mendelian Inheritance in Man",
+                        "namespacePrefix" : "OMIM",
+                        "url" : "https://omim.org/",
+                        "version" : "2021-01-21"
+                     }
+                  ]
+               }
+            },
+            "resolutionStatus" : "UNSOLVED"
+         },
+         "phenopacket" : {
+            "dateOfBirth" : "unknown-01-01T00:00:00Z",
+            "genes" : [],
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+                     "name" : "HUGO Gene Nomenclature Committee",
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+                     "version" : "2021-01-13"
+                  },
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+         "label" : "male"
+      }
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+                        "name" : "HUGO Gene Nomenclature Committee",
+                        "namespacePrefix" : "HGNC",
+                        "url" : "https://www.genenames.org",
+                        "version" : "2021-01-13"
+                     },
+                     {
+                        "id" : "mim",
+                        "iriPrefix" : "https://omim.org/entry/",
+                        "name" : "Online Mendelian Inheritance in Man",
+                        "namespacePrefix" : "OMIM",
+                        "url" : "https://omim.org/",
+                        "version" : "2021-01-21"
+                     }
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+            },
+            "resolutionStatus" : "UNSOLVED"
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+            "genes" : [],
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+                     "name" : "HUGO Gene Nomenclature Committee",
+                     "namespacePrefix" : "HGNC",
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+                     "version" : "2021-01-13"
+                  },
+                  {
+                     "id" : "mim",
+                     "iriPrefix" : "https://omim.org/entry/",
+                     "name" : "Online Mendelian Inheritance in Man",
+                     "namespacePrefix" : "OMIM",
+                     "url" : "https://omim.org/",
+                     "version" : "2021-01-21"
+                  }
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+               "label" : "Progressive visual loss"
+            }
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+            "featureType" : {
+               "id" : "HP:0000575",
+               "label" : "Scotoma"
+            }
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+            "featureType" : {
+               "id" : "HP:0007703",
+               "label" : "Abnormality of retinal pigmentation"
+            }
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+               "id" : "HP:0008002",
+               "label" : "Abnormality of macular pigmentation"
+            }
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+            "featureType" : {
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+               "label" : "Metamorphopsia"
+            }
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+         "label" : "female"
+      }
+   },
+   {
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+      "info" : {
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+                        "name" : "HUGO Gene Nomenclature Committee",
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+                        "version" : "2021-01-13"
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+                        "url" : "https://omim.org/",
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+                     "version" : "2021-01-13"
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+         "label" : "female"
+      }
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+                        "version" : "2020-12-07"
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+                        "name" : "HUGO Gene Nomenclature Committee",
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+         "label" : "male"
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+         {
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+               "id" : "Orphanet:97245",
+               "label" : "Congenital myopathy"
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+               "id" : "OMIM:117000",
+               "label" : "CENTRAL CORE DISEASE OF MUSCLE"
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+               "label" : "Weakness of facial musculature"
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+         "label" : "male"
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