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@jsstevenson
Created January 30, 2026 01:47
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vaf_cbioportal_example_20260129.json
{
"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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