We're excited to share the latest features and improvements in Franklin.
Key New features:
Gene Panel Exclusion Feature
We have added a new capability that allows filtering out from the variants page according to genes panels. In order to exclude a gene panel, you need to click the checkbox twice and the exclude red checkbox will be displayed.
Gene panel exclusion filter new option
gnomAD population max 95% confidence
On the variants page within the frequency filters, Franklin now provides an option to filter using the gnomAD popmax at a 95% confidence level. This allows for filtering based on the highest sub-population frequency while considering a 95% confidence interval. Note that according to gnomAD recommendations, this calculation only includes non-bottlenecked populations popmax and it excludes Ashkenazi Jewish (asj), European Finnish (fin), and "Other" (oth) populations. Note that this filter is only available from version 66 forward.
GnomAD max subpopulation frequency with 95% confidence interval
Family Pedigree Visualization: We've introduced a visual representation of family pedigrees in family cases. This pedigree is generated from the data of case family members and can be viewed in the case details side panel on the workbench. For extensive family structures, select "see full pedigree" to access an expanded view in the case details popup screen. Notably, if a family member's sample is absent from the analysis, their representation will be highlighted with a dashed line (refer to the example below).
Pedigree display on the workbench side panel
Full pedigree view for complex family stracture
Filter by Proximity to the Nearest Exon Edge
On the variants page, under the region filter, we've introduced a feature that lets you filter variants based on their distance from the nearest exon edge.To filter within the exon, input negative values. For instance, "-1" will target the first and last base pair (bp) of the exon.
To filter outside the exon, input positive values. For example, "+1" will target 1bp upstream of the lats exon bp or 1bp downstream of the first exon bp.
Closest Exon Distance Filter
Enhancements to Internal Frequency Backend:
We've made improvements to the internal frequency backend calculations, reducing errors and laying the groundwork for upcoming feature developments. Users can expect a consistent experience as there are no current changes to the user interface.
If you have any questions or need assistance, please refer to our help center or reach out to our support team.