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I am especially proud of a recent collaboration with Dr. Chad Shaw where we are developing applications of Causal Analysis to problems in clinical genetics and genomics. We envision a retranslation of classical genetics paradigms like ‘penetrance’ into the modern mathematical language of causality. Why is this necessary? A clinician who has ordered whole genome… Read more

Like any medical test genetic tests have to have analytical and clinical validity. Often medical geneticists and laboratory specialists have stopped there; satisfied that if a new genetic test leads to improved diagnostic rates that it is worth using for patients. That view is based on a strong intuition that getting to a molecular diagnosis… Read more