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This repository was archived by the owner on Apr 28, 2025. It is now read-only.
This repository was archived by the owner on Apr 28, 2025. It is now read-only.

Handle more copy number expression cases #700

Description

@theferrit32

Sometimes a copy number variant does not have a name that is in the expected format, and we cannot pull out the required parameters for copy number normalization. Currently we only support absolute copy number forms, so the copy count is required.

Some examples of variants we cannot normalize, expression (and clinvar id):

  • NT_187614.1:g.(?_357933)_(2127304_?)dup (32504)
  • GRCh37/hg19 1q43(chr1:237413038-237540797) (625614)
  • GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514) (625748)
  • NC_000021.7:g.(40550036_40589822)_(46915388_46944323)del (400868)

Attached a more extensive list. Some cover the same case.
unparsed-copy-numbers.edn.txt

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