Rare Genetics, Genomics and Diagnosis

Rare Genetics, Genomics and Diagnosis: Rare diseases are associated with genetic variations that affect how cells, tissues, or organs develop and function. Genetics examines individual genes and their inheritance, while genomics investigates the broader genetic information of an individual or organism. This session explores genetic testing, genome sequencing, variant interpretation, inherited disorders, molecular diagnosis, and emerging methods for identifying the underlying causes of previously unexplained conditions.

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