Standardizing UPD Analysis with GEBRA™

In genomic analysis, Uniparental Disomy (UPD) is a critical element for diagnosing rare diseases and identifying imprinting disorders. However, in traditional workflows, UPD has often been treated as a “special case” requiring manual intervention rather than a standardized reporting item.

The Problem: Fragmented Data and Manual Hurdles

1. Lack of Standardized Documentation
   Without a dedicated variant category, analysts had to “borrow” other categories or rely on manual text entries. This lack of structured data hindered post-management and the continuity of statistical analysis.
   
2. Analysis Delays Due to Data Fragmentation
   Diagnostic evidence, such as ROH (Run of Homozygosity) data, had to be extracted and cross-referenced outside the system. This disconnected workflow created bottlenecks and increased overall lead time.

Standardizing and Automating UPD Analysis

GEBRA™ has addressed these issues by integrating UPD as a Dedicated Variant Type. UPD is now fully incorporated into the GEBRA™ standard workflow, allowing for intuitive and structured analysis just like any other variant. Analysts no longer need to rely on external tools or manual records.

• Dedicated UPD Variant Tab
  Provides a specialized interface for UPD analysis to enhance focus and efficiency.
  
• Direct Selection & Reporting
  Select UPD directly within the system; essential reporting phrases are now generated automatically.
  
• Integrated Variant Card
  View related variants, genomic positions, and the number of associated genes within a single, unified card.
  
• Filtering & DB Integration
  UPD is integrated into the global filtering system. Every event is automatically recorded in the In-house DB, facilitating internal statistics and cumulative case management (Reported Case Statistics).

More Accurate, More Consistent Diagnosis

Beyond adding a new feature, this update elevates the overall quality of genomic services:

1. Structured Data Management
   Manage UPD using standardized data formats rather than informal, unstructured memos.
   
2. Maximum Analysis Efficiency
   By centralizing all necessary reporting information, we have completely eliminated manual conversion processes.
   
3. Guaranteed Reporting Consistency
   Ensure high-reliability reports by maintaining consistent standards and processes, regardless of the individual analyst’s experience level.

GEBRA™ is realizing faster, more accurate diagnosis by standardizing every step of genomic analysis. Experience the new UPD functionality in GEBRA™ today.