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Keeping Track of Emerging Phenotypes and Evaluating for New Ones; ChaD and EMBo

  • Broadcast in Science
Ambry Genetics

Ambry Genetics


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Analysis for ExomeNext takes place in two steps.  In step 1, we look at genes in which mutations have already been associated with disease in humans.  In step 2, we look at genes which have not been associated with human disease.  How do we keep track of which genes belong in which step though? And how do we evaluate the potential of a gene that has never been reported as being associated with disease in humans to cause disease in the patient we have in front of us?  In this podcast we speak with Erica Smith and Deepali Shinde about our ChaD and EMBoDy tools, two systems which allow us to do this type of analysis.