Version 94.1 Updates

We are happy to introduce several enhancements and new features in our latest update:

Assay selection is now required (mandatory) when creating or uploading cases from the UI. If your organization has a single configured assay, it will be selected automatically; otherwise, you will be prompted to choose an assay during upload. This update helps ensure cases are associated with the correct assay configuration and workflow.

RNA classification tags can now be configured for your organization. These tags will appear in tumor (somatic) cases, available for assignment to RNA variants as a part of the variant interpretation. Similar to SNP and SV, assigning RNA classification tags is performed from the RNA variant popup:

Assigned classification tags can be included in the Report, as available for other variant types. Furthermore, the Classification Tags dynamic filter now applies to RNA variants in addition to the other variant types. Finally, the Classification Tags dynamic filter will display RNA classification tags under Somatic sub-section when such tags are configured. This enhancement provides a more detailed and customizable interpretation of RNA variants. For more information on classification tags, please visit the following Help Center article. To configure classification tags for RNA or other variant types for your organization, please contact our support team ([email protected]).

In tumor (somatic) cases, the Classification Tags dynamic filter now displays as selection options tags configured only for SV - in addition to tags configured for SNP, or for both SNP and SV, as previously available. Identical tag names across variant types, if configured, will be displayed only once. The filtering logic remains unchanged - selecting a tag will filter for respectively tagged variants, of all types. This update allows more flexible filtering on variant classification tags.

In tumor (somatic) cases, a fusion variant’s "Ref evidence reads" field, found under the Confidence section of the expanded variant tile, now shows the maximum value across the fusion partners’ two VCF lines, instead of only showing the value of one of the partners. This update has no effect on filtering using the various Confidence filters. This enhancement provides you with a more clinically relevant representation of a fusion’s reference evidence.

In tumor (somatic) cases, Ion Torrent somatic assays can now intake CSV files, such as a sample-level QC metrics file, during case creation using sample sheet or the implicit API. To configure CSV intake for your Ion Torrent somatic assay, please contact our support team ([email protected]).