V100.39 Patches

Patches	Date
V100.39.2	December 28, 2025
V100.39.1	November 12, 2025

V100.39.2 Update (December 28th, 2025)

Features

• Analysis Tools | Filters | Added a description tooltip for every filter.

Fixed Issues

• [Hotfix November 24, 2025] Add New Case | Fixed flow for accessioning carrier analysis on parental samples in a trio.

• Pipeline | Fixed a rarely occurring V100.39 annotation issue for CNVs with the same chr:pos:ref:alt but different SV length.

• Pipeline | Fixed a rarely occurring bug that resulted in negative variant length for array cases.

• Lab Tab | Improved error messages on insufficient gene coverage query. Error message will clearly indicate whether no coverage file was available for the case or coverage is not available for a specific gene.

• Lab Tab | Gene coverage will be generated even when gene list includes a gene with no coding genomic regions, although no coverage can be generated for genes with no start position in the Emedgene knowledge graph.

• [Hotfix November 24, 2025] Variant Page | Summary, Evidence | Fixed an issue where interpretation text and ACMG evidence were not editable.

• Variant Page | Summary, Quality | Allele frequency rounded to 4 decimal points as in analysis tools. Export data is not rounded at all.

• Variant Page | Quality | Fixed a rounding error that could cause a slight error in the allele bias pie chart.

• Variant Page, Analysis Tools | Visualization | Fixed an issue where the Curate track did not display pathogenicity colors.

• Variant Page | Related cases | Fixed an issue that resulted in duplicate entries in the related cases component.

• Variant Page | Evidence | Fixed an issue where ACMG component was erroneously marking all tags as curated, even when only a few were activated in Curate.

• Variant Page | Evidence | Fixed a bug in the BP2 calculation that caused rare errors.

• Variant Page | Evidence | Fixed an issue where multi tagging functionality causes variant interpretation template to fail to generate.

• Analysis Tools | Fixed an issue occurring for organizations with variant multi-tag turned on that causes variants tagged by AI to appear as tagged by user.

• Analysis Tools | Fixed an issue where CADD score filter was hidden on the UI.

• Analysis Tools | Fixed an issue on the new combo page where a pagination warning was missing.

• Case Interpretation | When clicking close on Case Interpretation box without saving, text will not be saved as expected.

V100.39.1 Update (November 12th, 2025)

Features

• Variant Page, Analysis Tools | Improvements to follow ISCN nomenclature. Examples:

  • arr [GRCh38] Xq26.2-q26.3(133042525_136149357)x2

  • seq [GRCh37] 6p11.2(57801514_57827028)x3.

• Variant Page | Visualization | Deletions and duplications are now visually distinct in IGV. While colors in our embedded IGV are reserved for pathogenicity, users can now distinguish between deletions and duplications using patterns. Dashed variants are deletions. Pathogenicity colors are preserved.

• Variant Page | Visualization | BND from the DRAGEN SV caller can now be displayed in IGV (proband only) as a track called ‘BND’.

• Case Interpretation | Changed order of default displayed variants to prioritize customer tags before system tags. Customer tags can be sorted via a support request.

Fixed Issues

• Pipeline | Improved multiple pipeline infrastructure issues to reduce case processing time.

• Pipeline | Fixed multiple issues causing case failures including when SMN targeted caller outputs null values.

• Pipeline | Fixed an issue in transcript prioritization logic for gene lists that contain genes with deprecated symbols (using NCBIs).

• Cases Page | Fixed an issue where non-admins could move cases in ‘Trash Bin’ status to other statuses.

• Lab Tab | Improved insufficient regions error messages when no coverage information is available for the case/gene.

• Variant Page | Fixed a rare issue where variant interpretation template was not reloaded when moving between variants.

• Variant Page | Variant Interpretation Template (VIT) |Load from related cases or Curate – fixed an occasional issue where templates loaded were from the previous variant viewed.

• Variant Page | Variant Interpretation Template | Removed auto-load of VIT for CNVs, as the selection was the first annotated CNV rather than an exact match.

• Variant Page, Curate | Variant Interpretation Template now supports the special characters ‘&’ and ‘<>’ which were causing some report generation to fail.

• Curate | Analyze and Curate now share the same variant validation.

• Curate | Export now includes transcript.

• [Hotfix Oct 30] Curate | Fixed a role issue preventing access to Curate.

• Curate | Fixed a role issue preventing deletion from UI/API for some users.

• Report | Report PDF download is visible again.

• Report | Add an inheritance field to JSON export/report that supports multiple inheritance modes for a disease, as seen on the UI.

• Organization Settings | Fixed an issue editing Preset Filters that contain splice scores. The presets showed an error in the UI, while being saved correctly in the DB.

• Organization Settings | Time Zone added for Newfoundland (GMT-2:30).