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CNA Coding Documentation

karissawhiting edited this page Nov 29, 2022 · 2 revisions

From cBioPortal Docs:

profile_description: A description of the copy number data, e.g., "Putative copy-number from GISTIC 2.0.

Values:

  • "-2" = homozygous deletion;
  • "-1" = hemizygous deletion;
  • "0" = neutral / no change;
  • "1" = gain;
  • "2" = high level amplification."

From CMO (2022-11-05) The mapping follows the same nomenclature as GENIE (which follows cBioPortal vocab), this is the mapping:

  • "-2" is a deep loss, possibly a homozygous deletion
  • "-1" is a single-copy loss (heterozygous deletion)
  • "0" is diploid
  • "1" indicates a low-level gain
  • "2" is a high-level amplification.

For -1.5 entries, we actually convert them to -2 instead of -1.

In the package, any CNA event (1, 2, -1, -1.5, -2) will be counted as an event in the binary matrix unless high_level_cna_only is changed to TRUE

Sources 2022-11-05 Email with Ritika https://docs.cbioportal.org/file-formats/#discrete-copy-number-data

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