We are thrilled to share with you the latest update on our amazing bioinformatics platform! Our team has been hard at work to make your experience with Franklin even better, and we are confident that you will love the new features and enhancements.
Here's what's new in Franklin:
Draft classification
Your review process just got easier with another collaborative feature! Variant classifications can now be saved as preliminary, so they will not appear in the report until they get the final approval. Just fill in all the details when classifying a variant and select "Save as draft" to utilize this new tool.
This very required feature allows a more efficient and collaborative process for submitting and reviewing classifications. By submitting a draft classification, you can work with your team to ensure that the final classification is accurate and consistent.
Relatedness score
Exciting news for users performing trios! In the mission of improving the family case analysis process, we have optimized Franklin’s relatedness score by including:
Consanguinity Check - checking whether parents are family related and to what degree
Family Relationship Check - checking relationships between proband and all family members, even in cases with complex pedigrees, and warning if any of them do not fit the expected values
Franklin’s new relatedness score method is based on the KING coefficient score. The score is automatically calculated by a formula that takes into account the number of similar homozygotes and heterozygote variants in two samples. So, users now can be confident in the family relations reported, just by checking the Relatedness Score metric on the QC section of the workbench!
Ask The Expert
Unsure about a variant? We can help! The new “Ask The Expert” feature allows users to request an expert opinion directly within Franklin. Our team of genetic professionals will then offer support on the classification of the variant, providing an additional level of confidence and accuracy to your variant interpretation process.
To use this feature, simply search for a variant, click on the "Learn more" button in the light blue “Ask The Expert” banner, and complete any relevant information for the variant. In addition, the case details you have input will be shared with our experts in order to give them context for their assessment. Our team of experts will then review the request and provide their opinion by email in up to 7 days.
Would you like to try it out? Registered users can request up to three free expert opinions per month.
Other improvements
New UPD metric: We’re now showing a Uniparental Disomy indication in family cases for both WES and WG), including links to OMIM diseases related to imprinted genes.
Updated HRD interpretation: Now users can gain insights on the impact of HRD directly from Franklin, in addition to the already existing biomarker clinical interpretation for TMB and MSI.
We hope these new features will enhance your experience with Franklin and make it even more useful for your work. If you have any questions or feedback about this update, please don't hesitate to reach out to us.
If you’re interested in learning more about these new features, or want to explore analyzing FASTQ files and exporting custom reports with Franklin Premium, feel free to schedule a call!
- The Franklin Team |