
Dr. Euan Ashley on AI, Genomics, and Cardiology
NEJM AI Grand Rounds
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