Creating your first case in Franklin is easy and intuitive. This short article demonstrates how this could be done in less than 3 minutes.
Please note: Case analysis capabilities are available to registered users only, so if you don't already have an account in Franklin, simply sign up. Like everything in Franklin, case analysis is also free and unlimited.
To get started, navigate to the "My Cases" application, click on "new case" and select the analysis type. You can pick a case format, based on your desired workflow:
After choosing the application, you will get to the "New Case" Screen and can start the process of case creation.
Case Details
The first step is to fill out the case details you wish to include in your analysis. It is important to add all relevant information as this will enable Franklin to generate more accurate results. You can include the patient's ethnicity, sex, and date of birth as sample details, but most importantly, the patient's phenotypes should be indicated.
Case Creation
Case creation can be done using one of the two options below:
Upload a VCF/ AED file - drag and drop or select a file from your folders.
Manually add multiple variants - this could be a shortlist of your suspected variants or the list of the variants reported by the lab. You can use any of Franklin's acceptable nomenclatures (find the examples on Franklin's homepage).
Family Case Analysis
If you have selected the inherited disease family case, you have the freedom to construct any pedigree structure you desire. Simply move the VCF files you have uploaded to the appropriate location on the list, indicate whether they are affected or not, and include additional family members as necessary.
Once you have provided all the required details and information, click the "create" button and patiently wait for the upload and annotation process to finish. Please keep in mind that this process may take up to an hour.
When your case is fully prepared, it will no longer be grayed out and its status will indicate "Active." You can begin the analysis by selecting the case tile.
Check some best practices we recommend in this article.
Still have questions? Reach out to our Support Team, they'll be happy to help!