cBioPortal / cbioportal

cBioPortal for Cancer Genomics
https://cbioportal.org
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issue with diploid vs not profiled in gene-specific CNA chart #11111

Open tmazor opened 1 month ago

tmazor commented 1 month ago

Starting with full GENIE cohort, add gene specific charts for TP53 & EGFR (CNA and 2x mutations), then filter to EGFR mutations not profiled: https://genie-public-beta.cbioportal.org/study/summary?id=genie_public#filterJson={"mutationDataFilters":[{"hugoGeneSymbol":"EGFR","profileType":"mutations","values":[[{"value":"NOT_PROFILED"}]],"categorization":"MUTATED"}],"studyIds":["genie_public"],"alterationFilter":{"copyNumberAlterationEventTypes":{"AMP":true,"HOMDEL":true},"mutationEventTypes":{"any":true},"structuralVariants":null,"includeDriver":true,"includeVUS":true,"includeUnknownOncogenicity":true,"includeUnknownTier":true,"includeGermline":true,"includeSomatic":true,"includeUnknownStatus":true,"tiersBooleanMap":{}}}

Now look at EGFR CNA chart, it shows 12 diploid, 1 amp, and the rest not profiled: image

But if I run a query for EGFR, OncoPrint shows 1 amp and the rest not profiled: https://genie-public-beta.cbioportal.org/results?plots_horz_selection=%7B%7D&plots_vert_selection=%7B%7D&plots_coloring_selection=%7B%7D&tab_index=tab_visualize&Action=Submit&session_id=67196862854f636a38632b09 image And the tooltip indicates the amp is actually also not profiled: image

Setting aside the amp in an unprofiled sample, clickhouse study view is returning 12 diploid but OncoPrint shows all unprofiled -- so one of those must be wrong.

I tried to do this in non-clickhouse study view but it wouldn't work, so I can't say what happens there.

alisman commented 5 days ago

@onursumer can you fill in detail to this one

onursumer commented 5 days ago

This filter breaks the legacy study view page so we cannot really compare clickhouse to legacy.

We need to figure out why Oncoprint and study page show different results.