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Sampled mutation - PowerPoint PPT Presentation

Benchmarking Methods for Identifying Causal Mutations

Benchmarking Methods for Identifying Causal Mutations. Tal Friedman. Rare Genetic Diseases. Our goal: identify and diagnose rare genetic diseases Difficult for clinicians due to incredibly low exposure Often not already documented. PhenomeCentral. Clinicians upload patient data.

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Sampled mutation - PowerPoint PPT Presentation

Benchmarking Methods for Identifying Causal Mutations