Next & Now

Join Ambry Genetics for exciting, on-demand updates in genetic technologies and clinical diagnostics. Ambry’s core values have always included collaborating and sharing scientific discoveries to help families affected by genetic conditions. Tune in here for cutting-edge discussions from leading clinicians, scientists, and researchers on a wide variety of topics.



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

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.


 21 October 2015  22m