We are happy to introduce several enhancements and new features in our latest update:
ACMG Secondary Findings Updated to v3.3
The ACMG Secondary Findings (SF) gene list has been updated to version 3.3, in line with the latest policy statement from the American College of Medical Genetics and Genomics. This updated list is now available as a Public Gene Panel in the organization’s panel list:
In addition, the ACMG SF gene list used in the Gene Properties filter has also been updated to reflect version 3.3.
Please note, this change will affect any future saved Quick Filters or Filter Decision Trees that rely on the Gene Properties filter. However, filters that were already created with an older version of the ACMG SF panel will not be changed. In order to update the version, a new Quick Filter or Filter Decision Tree needs to be created. You can view the full ACMG SF v3.3 gene list here.
Snippets Library Now Available to All Users
The Snippets Library feature is now accessible to all users, without any need for special activation or enablement. You can freely access and use the default Snippets Library. For more information on snippets, please refer to our Help Center article. If you wish to enrich and customize your snippets library, please contact our support team ([email protected]).
Frequency Widgets Upgraded to Smart Table
Frequency widgets (covering internal, community, and HGMD data) now use the new Smart Table format, aligning with the variant page experience. You can easily drag and drop to reorder columns and adjust column widths for a customized view.
Alignment of Knowledge Base Variant Export to Latest Import Templates
The structure of the Knowledge Base (KB) export files for SNP and SV has been updated to better align with the latest import templates (recently updated to support somatic and oncogenic variants). The Classification column in the exports now also includes the Sub Level information (e.g. "Tier 1A" in Classification column), rather than separate Classification and Sub Level columns. The exports also include the recently added Classification System column, positioned to the right of the Classification column.
Tumor Cases: Pval and CI Values for SV Available in the Report
In tumor (somatic) cases, SVs in the Report now show p-value (Pval) and confidence interval (CI). This mirrors the details available on the expanded variant tile (Confidence section).
View and Filter LOH by Number of Probes in CMA Family Cases
You can now view and filter by "Number of probes" for LOH in CMA family cases, similar to CMA single cases. The annotation appears on the variant tile, and you can use the corresponding filter, found under the Confidence section.
Disabling Names of Previous Samples in CNV Confidence Widget
In the Confidence widget of CNVs, the display and search of names of previous samples (analyzed by the same CNV model) can now be disabled. When disabled, tooltips in the widget do not show previous sample names, and the sample selection menu hides the search bar and omits previous sample names (while still allowing selection at the date level). The current case's sample name (or names, in family cases) remains visible throughout, ensuring access to relevant details while minimizing the risk of inadvertent findings. To configure this for your organization, please contact our support team ([email protected]).