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