New pipeline 32 (June 8th 2023)

Hotfix released for the following issues:

Pipeline | Fixed a bug that rarely caused discordant AI Shortlist results between a first and second analysis due to model selection.
Pipeline | Fixed an issue causing some reanalysis cases to fail due to insufficient backward compatibility with previous zygosity values. This fix will improve pipeline robustness.

Hotfix released for the following issues:

Pipeline | Improved error logging for DRAGEN for easier troubleshooting.
Pipeline | SMN Caller | Fixed multiple issues causing case failures from FASTQ & BAM.
Pipeline | SMN Caller | Fixed issue for GRCh37 & SMN caller where relatedness isn’t calculated due to Peddy failure.
Pipeline | Enable flow where in a trio only the Proband has Ploidy outputs and parents don’t.
Pipeline | Don’t fail cases where no samples are provided but ignore samples isn’t set.
AI Shortlist | Include full gene list in Phenomeld for virtual panels, irrespective of phenotypic match.
Pipeline | Fixed issue where proband coverage copied to parents for customers starting from joint gVCF.

New Features

Support for non-GC corrected PONs in the CNV analysis pipeline for panels, in alignment with DRAGEN recommendations.
Updated case status when sample pipeline fails, for quicker troubleshooting and resolution.
Emedgene supports case ingestion from VCF for customer variant callers, as defined in customer’s implementation plans. Several new customer callers were added in this version, and updates made to existing callers. Full documentation is available in the Help Center.

Emedgene DRAGEN Pipeline | Save DRAGEN logs for easy troubleshooting of pipeline failures.
Compound Het | Optimized performance to eliminate timeouts during case annotation.

ClinVar sanity check fails case if there are no known variants in ChrY. Workaround: Manual delivery. Fix planned in 33.0.
Visualization is not supported for users storing VCF and CRAM on ICA V1 and BSSH. Only VCF and BAM are supported.

Last updated 7 days ago