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Use new Fusion nomenclature recommendations #16

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creisle opened this issue May 11, 2022 · 0 comments
Open

Use new Fusion nomenclature recommendations #16

creisle opened this issue May 11, 2022 · 0 comments
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breaking changes enhancement New feature or request

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@creisle
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creisle commented May 11, 2022

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

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

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