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Explore pathogenic genetic variants and phenotype analysis with AI tools for rare disease research at Charité Berlin.
Analyze rare genetic variants with AI-powered tools
This website focuses on identifying and characterizing pathogenic sequence variants in patients with rare genetic diseases. You can explore how candidate mutations are prioritized based on their impact on genome structure and patient phenotype. The platform uses advanced AI techniques, including automated face recognition, to support deep phenotyping.
Designed for researchers and healthcare professionals, the site provides detailed insights into genetic variations and their clinical relevance. It serves as a resource for understanding complex genetic data and improving diagnosis through computational biology methods.
By combining genetic sequencing data with AI-driven analysis, the platform helps you connect genomic information to patient outcomes. This makes it a useful tool for advancing rare disease research and supporting personalized medicine approaches.
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