Key New features:
Repeat Expansion Catalog Update
The Repeat Expansion Catalog has been updated to support the latest version of Expansion Hunter. Over 50 repeats are now supported by Franklin. Additionally, calling exonic repeats in WES pipelines is now supported. To add this configuration, contact [email protected].
New Filter: gnomAD Max (95% CL) Frequency
Franklin has introduced a new filter for somatic cases, enabling users to filter by the gnomAD max (95% CL) frequency, enhancing the precision of variant filtering in somatic analyses.