Клиническая биоинформатика: диагностика наследственных заболеваний

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This lecture provides an in-depth exploration of clinical bioinformatics, emphasizing its critical role in hereditary disease diagnosis and variant classification. Topics include updated genetic standards, the ACMG guidelines, and a framework for variant interpretation using a five-tier system. Advancements in next-generation sequencing and its integration into clinical practice are also covered. Practical applications, real-world case studies, and ethical considerations in bioinformatics are...