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"Not mutated" samples are incorrectly classified as "Not profiled" #10993

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fuzhaoyuan opened this issue Sep 16, 2024 · 0 comments
Open

"Not mutated" samples are incorrectly classified as "Not profiled" #10993

fuzhaoyuan opened this issue Sep 16, 2024 · 0 comments

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@fuzhaoyuan
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The problem:
Samples that are {profiled, not mutated} on gene EGFR-mutations are classified as {not profiled} in legacy backend.
image

To replicate:

  1. Open study "brca_tcga_pan_can_atlas_2018"
  2. In "Charts->Gene Specific", add "Mutations: Mutated vs Not Mutated" and "Putative copy-number alterations from GISTIC" for gene EGFR.
  3. Select type {NA, HOMDEL} in "EGFR:Putative copy-number alterations from GISTIC"
  4. Check the samples in "EGFR:Mutations: Mutated vs Not Mutated"

Additional information:

  • It was found during the verification testing of ClickHouse implementation against legacy endpoint, samples are checked and they are indeed profiled based on my understanding.
  • The issue should be inside endpoint "mutation-data-count" when it's classifying samples.
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