5min chapter

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Dr. Euan Ashley on AI, Genomics, and Cardiology

NEJM AI Grand Rounds

CHAPTER

The History of Clinical Genetics

I think we absolutely need to think about quantification all the way into the rare disease part of that spectrum, which is where your question began. I think some technologies will help us and it wouldn't happen immediately. We obviously are already far along because of these population cohorts. That's tremendous. But there are a few other approaches to that where you essentially do saturation mutagenesis, create every single variant in a cell or multiple cells and then phenotype them. And I think that is a technology along with moving to the millions and tens of millions of people in population cohorts that would allow us to get to the point of a very reasonable pre-probability for us when a patient comes with

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