Incidental and discovery genes

You can add incidental or discovery genes to your analysis and the Return of results from the Double Helix on the black navigation bar.

Incidental genes

You can select to report for just the Proband or others in the sequencing, and which genes you want to report.


Discovery genes

Sometimes the gene responsible for the illness has not yet been identified as having a human clinical phenotype. Click the DNA helix button on the top black bar in the software and select “Discovery genes.” Those with brown text are ExAC suspicious. Clicking on a gene zygosity allows you to view its mini-variant table and links to helpful resources for assessing the relevance of the gene. Discovery genes are most useful when family-aware variant calling has weeded out spurious de novo variants.