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Recover Archer Fusion Events #1364

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averyniceday opened this issue Aug 1, 2024 · 2 comments
Open

Recover Archer Fusion Events #1364

averyniceday opened this issue Aug 1, 2024 · 2 comments
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backend-scrum items centered around engineering activities interrupt

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@averyniceday
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averyniceday commented Aug 1, 2024

Done Condition (What do we need? Why do we need it? Keep this is small as possible!)

SV Records with or without Site1/2 Gene
Indicate whether event is from Archer - check annotation on frontend, confirm with Angelica
RNA Support - unknown

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@averyniceday averyniceday added backend-scrum items centered around engineering activities interrupt labels Aug 1, 2024
@averyniceday averyniceday changed the title Recover SV Data Recover Archer Fusion Events Aug 1, 2024
@averyniceday averyniceday self-assigned this Aug 13, 2024
@averyniceday
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Appears that cases without Site1/Site2 gene are due to actual runs where test was run and no fusions found --

Validated by doing a check for all samples without Site1/Site2 Hugo Symbol --
Total ~4000/30000

Checked data to see if there was an issue with processing noticed comment like --
DIAGNOSTIC INTERPRETATION: NEGATIVE FOR GENE FUSIONS IN THE CLINICALLY VALIDATED PANEL NEGATIVE FOR GENE FUSIONS IN THE INVESTIGATIONAL PANE

did a check for comments across all samples without site1/site2 -- all had similar comments. "NEGATIVE FOR GENE FUSIONS" cases were removed and check redone - total remaining cases: 42.

@averyniceday
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Pinged Mihir Sept 25 about the above ^

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