Classic: An interactive, collaborative variant classification portal for genetic analysis.
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All Authors
Spiewak, Helena
Holmes, David
Nalty, Sam
Corbin, Chris
LTHT Author
Spiewak, Helena
Holmes, David
Holmes, David
LTHT Department
Genetics
Non Medic
Clinical Scientist - Bioinformatician
Publication Date
2025-07-10
Item Type
Conference Abstract
Language
en
Subject
Subject Headings
genetics
digital
software
digital
software
Abstract
Diagnostic genetic analysis is essential for identifying the causes of genetic disorders, enabling more precise and personalised treatments for patients. However, classifying genetic variants—determining which impact health and which are harmless—is a complex and time-consuming task. To address this challenge, bioinformatics specialists and genomic scientists developed ClassIC (Classification Information Commons), a user-friendly software tool that facilitates the recording, sharing, and curating of variant classifications. This tool aligns with national guidelines, supporting standardised analysis in NHS labs.
Aims
The primary goals of the software are to improve diagnostic accuracy, speed, and collaboration in genetic analysis through:
More Accurate Diagnoses: The standardised classification system reduces misinterpretation, leading to more accurate diagnoses.
Improved Collaboration: The platform enhances knowledge sharing among scientists, improving patient care.
Faster Diagnoses: Streamlining the process reduces waiting times, ensuring timely care delivery.
Methods
ClassIC integrates into existing analysis workflows, allowing scientists to classify variants consistently. Deployed in Leeds, Sheffield, and Newcastle, the platform has been used for the classification of thousands of variants. The variant database has been combined with a user-friendly interface to reduce the time taken to analyse variants and allowing teams to share variant analysis data.
Results
ClassIC has been successfully implemented in Leeds and the wider region, with very positive feedback. The platform has enhanced collaboration, helping scientists to compare and refine analysis methods, and staff continue to contribute to the database’s ongoing development to maintain its effectiveness.
Conclusion
ClassIC improves genetic analysis by offering a collaborative platform that enhances diagnosis speed and accuracy. This approach enhances the overall quality of genetic analysis, ensuring that patients receive faster, more accurate diagnoses and better overall care.
ClassIC is an example of innovation that provides an effective, user-friendly variant analysis portal, making Leeds one of the very few NHS labs with such an asset.