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Change content of demo json submission to include a demo submission f…
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…rom ClinVar
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Chiara Rasi committed Sep 19, 2024
1 parent 9649693 commit 9814e8b
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4 changes: 2 additions & 2 deletions preClinVar/demo/__init__.py
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Expand Up @@ -22,5 +22,5 @@
variants_sv_range_coords_csv_path = str(files(BASE_PATH).joinpath(variants_sv_range_coords_csv))

###### Example of a json file submission ######
subm_json = "submission.json"
subm_json_path = str(files(BASE_PATH).joinpath(subm_json))
clinsig_subm_json = "sample_clinical_significance_hgvs_submission.json"
subm_json_path = str(files(BASE_PATH).joinpath(clinsig_subm_json))
52 changes: 52 additions & 0 deletions preClinVar/demo/sample_clinical_significance_hgvs_submission.json
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@@ -0,0 +1,52 @@
{
"clinvarSubmissionReleaseStatus": "hold until published",
"assertionCriteria":{
"db": "PubMed",
"id": "25741868"
},
"clinvarSubmission":[{
"recordStatus": "novel",
"clinicalSignificance": {
"clinicalSignificanceDescription": "Pathogenic",
"dateLastEvaluated": "2018-04-28",
"comment": "This comment explains the rationale for classifying this PDE6B variant as pathogenic for Retinitis pigmentosa-40.",
"citation": [{
"db": "PubMed",
"id": "PMID:11295882"

},
{
"db": "PubMed",
"id": "PMID:1363786"

},
{
"url": "https://yourdatabaselink.org"
}],
"modeOfInheritance":"Autosomal dominant inheritance"
},
"observedIn":[ {
"alleleOrigin": "germline",
"affectedStatus": "yes",
"collectionMethod": "clinical testing",
"numberOfIndividuals": 1
}],
"variantSet": {
"variant": [{
"hgvs":"NM_000283.3:c.3645A>T",
"gene":[ {
"id":2
}]
}]},
"conditionSet": {
"condition": [{
"db": "OMIM",
"id": "613801"
}]

}


}
]
}
200 changes: 0 additions & 200 deletions preClinVar/demo/submission.json

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