V100.39 Patches

Patches	Date
V100.39.1	November 12, 2025

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).