Candidates tab

The Candidates tab presents:

• A shortlist of the most promising variants with the highest scores from the AI Shortlist: Most Likely Candidates and Candidates:

  • before 30.0: SNVs;

  • 30.0+: SNVs and CNVs;

  • 32.0+: SNVs, CNVs, SVs, mtDNA variants and STRs.These variants are initially selected by the AI Shortlist, but you may untag variants or tag them manually during the case review.

• Incidental - pathogenic or likely pathogenic variants in the medically actionable genes defined by the ACMG. These variants are automatically tagged only if you've selected the Secondary findings checkbox while creating a case.

• Carrier - variants identified by the Carrier analysis pipeline. Carrier variants are automatically tagged only if you've selected the Carrier Analysis checkbox while creating a case. Analysis requirements and a list of targeted regions are specified by the organization's manager. This Carrier analysis flow is implemented by request.

• In Report - variants that were manually selected to be reported.

To select variants with a particular tag, use the Filter candidates dropdown menu in the top right corner. You can choose between Most Likely, Candidate, Incidental, Carrier, Not Reviewed, or any custom tags used in your organization.

For each variant on the Candidates tab, you can explore the suggested diagnosis, gene symbol, main variant details, and variant tag.

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When a variant is found in a gene with no known association with a disease, the possible diagnosis cannot be indicated. Such variants are displayed under the Gene of Unknown Significance title.

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All the relevant Most Likelies and Candidates fitting a сompound heterozygous mode of inheritance are presented together. This refers to both confirmed and assumed compound heterozygosity (cases with at least one parent and singleton cases, respectively).

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If you want to inspect the complete variant information, click on the variant bar to continue to the Evidence page. You can visualize evidence in text or graphical format (Click on the interactive text in the top left corner: Show evidence as text or Show evidence graph to toggle between the two).