Fri, 07/29/2022 - 09:00
The main changes in NGS Wizard ver. 1.9.0:
- The official recommendations of RUSSCO, NCCN and ESMO for convenience and improved quality of the cancer specimen interpreter were integrated.
Recommendations are tailored to the patient's clinical information (commonly displayed in the patient record or can be added when completing the clinical report) and contain therapeutic options for treating major cancers.
Recommendations are available for oncological samples in the Variant Viewer tool in the "Oncological Relevance" column and in the automatically generated preliminary medical report.
The Oncological Relevance column is enabled in the Variant Viewer settings; by default, the column is not displayed.
- Special tools for genotype analysis in family trios (proband/mother/father) were improved.
Settings for family analysis (a type of group analysis) were expanded and we have added new filters in the Variant Viewer that allow you to find de novo variants inherited from one parent, homozygotes for loci in the proband that are heterozygous in the parents in a few seconds.
- Sample interpretation statuses were added.
When multiple samples are analyzed simultaneously, you can mark those samples whose interpretation is complete. The sample interpretation status is displayed on the run and patient pages and in the Variant Viewer. When interpretation is complete, information on the number of variants found and the pathogenicity class is displayed. The ability to filter by interpretation status in the Variant Viewer has also been added for runs.
- Now you can save the state of filters and sorting in the Variant Viewer for each sample.
- NCBI RefSeq transcript codes (NM_...) were added to Variant Viewer.
The "RefSeq Transcript" column is enabled in the Variant Viewer settings; the column is not displayed by default. Now you can switch the NGS Wizard interface language in the user profile.
- Automatic status updates on the All Patients page were implemented.