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research overview The vast majority of rare diseases in children are thought to result from underlying variations in the sequence of their DNA. However, distinguishing the specific genetic variants that cause disease and deciphering their functional consequences remains a major challenge. The Younger Lab integrates a series of research programs (i.e. Variant Identification, Variant Prioritization, Genetic Modeling, and Functional Profiling) to accelerate the process of translating the clinical detection of genetic variants into meaningful and actionable biological discoveries.

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  • Rare Diseases