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@lauramccluskey1 lauramccluskey1 commented Feb 19, 2025

This PR includes

As part of updating the panels, the way the code detects genes for targeted tests was also changed. This means that it should no longer use panels, but instead detect genes in the genotype and karyotypingmethod columns for targeted tests.

A QA has been completed and my counts now match with Fiona's manual counts.

@lauramccluskey1 lauramccluskey1 marked this pull request as draft February 19, 2025 15:53
@lauramccluskey1 lauramccluskey1 marked this pull request as ready for review February 20, 2025 13:12
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lauramccluskey1 commented Mar 7, 2025

@shilpigoeldev please see email before signing this off. I didn't have time to complete the checks after making the updates so please could you do this first (instructions are in email). Thank you!

@shilpigoeldev shilpigoeldev self-requested a review March 18, 2025 16:08
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@shilpigoeldev please see email before signing this off. I didn't have time to complete the checks after making the updates so please could you do this first (instructions are in email). Thank you!

I have now run the importer locally and can confirm the counts tally with Fiona approved ones and variants captured look ok , there were some changes needed in the test file which I have done. Review comments have been incorporated and changes look good.

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LGTM, and counts tally after changes !!

@shilpigoeldev shilpigoeldev merged commit 3904fee into develop Mar 24, 2025
6 of 13 checks passed
@shilpigoeldev shilpigoeldev deleted the feature/NDRS2-2031/sheffield_brca_regex_updates branch March 24, 2025 11:05
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3 participants