This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies.
The advent of next-generation sequencing (NGS) has greatly improved the ability to rapidly assess many genes at the same time, but the analysis and interpretation of complex genomic variants still remains a challenge. In order for NGS to find use in routine diagnostics, clinical laboratories must be able to overcome this complexity and enable better outcomes for patients.
Dr. Alexandre Janin, member of the molecular cardiogenetic lab at Hospices Civils de Lyon in France, has solved this complexity and successfully characterized difficult variants by adopting the Sophia Platform.
Dr. Janin will discuss how the platform:
- Enables fast and comprehensive analysis;
- Detects copy number variations quickly and efficiently;
- Facilitates variant interpretation by sharing knowledge among members of the national network for Hereditary Cardiac Diseases (Cardiogen)
Dr. Janin will be joined by Dr. Audrey Coiffic, Clinical Application Product Manager at Sophia Genetics, who will discuss the most recent developments in targeted solutions for the advanced detection of inherited cardiac diseases.