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Instead of using the bracket notation we would simply split the breakpoints with a double colon.
This will require updates to the parser as well as a data migration to the existing data in out production graphkb instance.
Some examples of the notation migration are in the table below
old notation
new notation
(FEATURE1,FEATURE2):fusion(e.3,e.2)
FEATURE1:e.?_3::FEATURE2:e.2_?
(FEATURE1,FEATURE2):fusion(e.3,e.2)ATGC
FEATURE1:e.?_3::ATGC::FEATURE2:e.2_?
Since this new notation does not support including a "type" field we may still need to use an augmented form but would be good to be closer to the current specification
The text was updated successfully, but these errors were encountered:
The current mavis fusion/breakpoint notation was based off of the cytogenic descriptions previously used by HGVS
The new fusion recommendations are potentially simpler
Instead of using the bracket notation we would simply split the breakpoints with a double colon.
This will require updates to the parser as well as a data migration to the existing data in out production graphkb instance.
Some examples of the notation migration are in the table below
(FEATURE1,FEATURE2):fusion(e.3,e.2)
FEATURE1:e.?_3::FEATURE2:e.2_?
(FEATURE1,FEATURE2):fusion(e.3,e.2)ATGC
FEATURE1:e.?_3::ATGC::FEATURE2:e.2_?
Since this new notation does not support including a "type" field we may still need to use an augmented form but would be good to be closer to the current specification
The text was updated successfully, but these errors were encountered: