Key New features:
New Gene Curation Features: Phenotypes, ACMG Rules, and File Upload
As part of the enhanced gene curation experience in Franklin, several new features have been introduced:
Phenotype Curation: Allows users to add specific phenotypes to condition curation with a suggested phenotypes mechanism.
ACMG Rules Eligibility: Defines the eligibility of ACMG rules for each condition.
File Upload: Enables attachment of files directly to the condition curation for more comprehensive data management.
Genes Knowledge Base: Search by Condition
Franklin now allows users to search in the Genes Knowledge Base by conditions that have been curated within each gene, enhancing navigation and retrieval of relevant data.
My Org Classification Filter for CNVs
The "My Org Classification" filter now applies to similar variant classifications based on reciprocal overlap, with a default threshold of 50%. This threshold is configurable, and adjustments can be made through the Genoox support team.
Manta SVs: Enhanced Quality Metrics
Franklin now displays additional quality metrics for Manta SVs on the expanded tile:
PR (spanning read pairs)
SR (split-reads)
Internal Frequency Display Update
The display for novel variants has been adjusted. For variants not previously observed in organization cases, the internal frequency now shows 0 instead of N/A for clearer representation.