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[User Story] Remove low-mappability variants from gnomad vcf used for GENS #1447

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mathiasbio opened this issue Jun 14, 2024 · 0 comments
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@mathiasbio
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Need

As a clinician I want noiseless BAF profiles in GENS, but primarily as a bioinformatician I want to reduce manual work by needing to manually run DNAscope with the given gnomad where problematic regions have been filtered out. See issue: #1431

Suggested approach

We can filter out variants in low-mappability regions of the current gnomad VCF used for GENS BAF plot creation and replace the current gnomad VCF in production with this filtered VCF. This should hopefully remove the risk of cases crashing in production due to memory, and beyond that it's good practice to remove these regions from analysis.

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System requirements assessed

  • Yes, I have reviewed the system requirements

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Can be closed when

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@mathiasbio mathiasbio added the User-Story A User-Story describing new functionality label Jun 14, 2024
@github-project-automation github-project-automation bot moved this to Todo in BALSAMIC Jun 14, 2024
@mathiasbio mathiasbio added this to the Release 16 milestone Jun 17, 2024
@mathiasbio mathiasbio self-assigned this Jun 17, 2024
@mathiasbio mathiasbio modified the milestones: Release 16, Release 17 Oct 15, 2024
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