Challenges of exome & genome analysis - Prof. Dr. Christel Depienne | varvis® Corp. Sat. @ESHG 2024
Автор: varvis®
Загружено: 2024-06-13
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Navigating the challenges of exome and genome analysis in rare diseases: a case series
Prof. Dr. Christel Depienne, University Hospital Essen
Approximately 50% of patients with rare diseases of supposed genetic origin remain undiagnosed after exome analysis. In this presentation, we delve into the potential factors contributing to these diagnostic gaps and provide insights into uncovering elusive variants, featuring successful cases solved using the varvis software. We emphasize the importance of sequentially removing variant filters and shed light on overlooked causative variants due to quality discrepancies, evolving disease knowledge, or challenges in interpreting variants within non-coding genomic regions.
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