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Franklin best practices for case investigation
Franklin best practices for case investigation

how to analyse your first genetic case using Franklin

Updated over a week ago

All the cases you created, by uploading a VCF file or manually selecting variants, appear in the "My Cases" tab.

Franklin is designed to help you manage the case analyses and to highlight the suspected case variants in a workbench view, which is the homepage when entering a case.

In the workbench, you can find the quality control parameters of the sample and the case data.

In the analysis results section, Franklin displays a shortlist of the most relevant variants, found by the Franklin A.I. prioritization engine.

For more information about variants priority in Franklin please visit "The Genoox AI-based variant prioritization engine" article.

Pro tip: Adding case phenotypes, reported on the proband, helps Franklin to improve the accuracy of the prioritization algorithm and to display better analysis results.

After screening the sample parameters and updating the case data it is time to review Franklin’s suggested variants in the analysis results.

Clicking on the gene name opens the "Variant interpretation hub" popup

Here, you can find multiple annotations and evidence, associated with the variant, including ACMG based classification, relevant articles, phenotypes, and more.

After exploring the variant data, in order to complete the variant interpretation, Classify it according to your findings and conclusions.

Pro tip: Embrace the power of the Franklin community, use the variant community feed. Share your classification, browse the data other members added, and consult with the community members to improve your classification.

To review the full variant list of the case, click on the "Variants" tab in the sidebar menu on the left.

Use Franklin multiple complex filters to narrow down the results by relevance (left side of the list), or searched via specific gene or phenotype (search bar) to discover additional relevant variants.

If you find any other relevant variants, classify them and add them to the workbench.

Pro tip: Use the workbench view to summarise your investigation results.

Edit the variants list in the analysis results by adding additional relevant variants and removing irrelevant ones so that the workbench will display your list of the classified variant that solves the case.

Still have questions? Reach out to our Support Team, they'll be happy to help!

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