V32 Patches

Patches	Date
V32.4	June 19th, 2024
V32.3	Feb 12th, 2024
V32.3	Jan 1st, 2024
V32.1	Oct 26th, 2023

V32.4 hotfix released for the following issues:

• Add New Case | Storage | Fixed a timeout issue retrieving BSSH projects for customers with very large numbers of projects.

• Pipeline | Fixed an issue that caused variants with GT = “.” to be displayed as Hemizygotes on the user interface.

• AI | Fixed a limitation of the AI with processing variants with large ClinVar annotations.

• Candidate Page | Fixed issue where displayed gene on candidate page differed from gene in evidence graph/analysis tools.

• Variant Page | Updated Orphanet links to new Orphanet structure.

• Variant Page | Fixed an issue where MitoTip prediction score quartiles were mislabeled, although the score appears correctly.

• Curate | Fixed an issue where related cases component could link to the wrong related case if payload data was missing.

• Reporting | Fixed an issue where reanalyzed cases between versions could sometimes result in issues tagging variants for reports.

• Performance: Additional updates to increase performance specifically for IGV component.

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V32.3 hotfix released for the following issues:

• Add New Case | NovaseqX added to selectable sequencers.

• Cases Page | A search on this page will only search for EMG ID, sample names, or any string in the test data. This fix will improve performance.

• Analysis Tools | Fixed variant count issue for compound heterozygous filters caused by using a single source for what is essentially a two-step process. Only count displayed was incorrect.

• Variant Page | Fixed incorrect gnomAD link after the gnomAD v4 release.

• Performance: Additional updates to increase performance through infrastructure modifications.

• 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.

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V32.2 hotfix released for the following issues:

• Performance: Additional updates to increase performance through infrastructure modifications.

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V32.1 hotfix released for the following issues:

• Batch Upload | Fixed issue for singleton cases uploaded with batch uploader that resulted in inability to edit cases after creation.

• Batch Upload | Fixed issue causing Not Authenticated error for customers with more than 100 BSSH projects.

• Batch Upload | Improved backward compatibility for Gender changed to Sex field (in v33)

• Lab Page | Fixed issue of no coverage statistics for cases with missing samples. Coverage appropriately generated for the samples submitted with the case.

• Lab Page | Fixed missing average coverage affecting some pipelines.

• Analysis Tools | Manually Added Variants | Fixed a bug where manually added variants are sorted incorrectly causing them to ‘disappear’ from the UI.

• Analysis Tools | Export | Resolved issue in export of some Presets and Filters due to incomplete customer facing role.

• Variant Page | Updated Decipher link after link structure change.

• Curate | Fixed User Interface bug where selecting a disease associated with a gene for a variant, makes is appear like it is selected for all variants in that gene. Backend is behaving as expected, each variant is independent.

• Curate | Enable customers to login to Curate when signed into a different organization on Analyze.

• Reanalysis | Fixed backward compatibility issue preventing variants in cases originally analyzed on and before V27.0 to be pushed into a report.

• Settings | Fixed issue where S3 credentials couldn’t be generated for long domain names. Character limit is eliminated.

• Settings | Fixed issue in kit BED validation for chromosome validation.

• Infrastructure: Multiple improvements of resource allocations to increase robustness.

• 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.