Change log pipeline v34

For customers validating v34 pipeline, here is a list of updates vs v33.1

  • Annotations | Add PrimateAI-3D annotation

  • Annotations | Add gnomAD v4 for SNVs

  • Variant Data | Make REVEL score available for filtering and export

  • Variant Data | Make DRAGEN VCF FILTER field available for filtering

  • Case Quality | Update fail & skip logic on case quality and push case quality data to Lab Tab

  • Case Quality | Add contamination results from Peddy

  • DRAGEN 4.2 | For customers using the Emedgene DRAGEN pipeline, no post-processing of SV and STR VCFs to add headers, as these are included starting in DRAGEN 4.2.

  • Emedgene supports case ingestion from VCF for customer variant callers, as defined in customer’s implementation plans. Two new customer callers were added in this version.

  • Fixed Issue | Add New Case | Check that BSSH files are fully uploaded before initiating case.

  • Fixed Issue | Don’t fail a case if non-mandatory files are not present for some samples.

  • Fixed Issue | Export | MiniVCF | VCF format field fixes for broader compatibility with downstream tools

  • Fixed Issue | Export | MiniVCF excel file creation will no longer fail for some field types

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