Created
January 30, 2026 01:47
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vaf_cbioportal_example_20260129.json
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| { | |
| "type": "TumorVariantFrequencyStudyResult", | |
| "id": "<figure out an ID rule>", | |
| "focusVariant": "ga4gh:VA.kNnN0j0CvPaXeJyCmDFmTATjIwjPrJLn", // pretend there's a whole variation here. or catvar? | |
| "affectedSampleCount": 2, // total # of samples in study w/ allele | |
| "totalSampleCount": 34, // total # of samples in study | |
| "affectedFrequency": 0.058824, | |
| "sampleGroup": { | |
| "id": "all_stjude_2015", | |
| "label": "all_stjude_2015", | |
| "type": "StudyGroup", | |
| "characteristics": { | |
| "conditions": [ | |
| { | |
| "name": "acute lymphoblastic leukemia", | |
| "conceptType": "Disease" | |
| }, | |
| { | |
| "name": "Pediatric onset", | |
| "conceptType": "Phenotype" | |
| } | |
| ], | |
| "membershipOperator": "AND" | |
| } | |
| }, | |
| "reportedIn": [ | |
| { | |
| "id": "pmid:25730765", | |
| "title": "The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias", | |
| "type": "Document", | |
| "documentType": "publication", | |
| "pmid": "25730765" | |
| } | |
| ], | |
| "sourceDataSet": { | |
| "type": "DataSet", | |
| "dataSetType": "whole genome sequencing? variant calls?", | |
| "name": "all_stjude_2015", | |
| "id": "cbioportal.dataset:all_stjude_2015", | |
| "license": { | |
| "name": "ODC Open Database License", | |
| "conceptType": "License" | |
| } | |
| } | |
| } |
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