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Dr. Euan Ashley on AI, Genomics, and Cardiology

NEJM AI Grand Rounds

CHAPTER

Genetic Sequencing

In the past, scientists would look for rare variants and polygenic risk scores. Now they can use a much richer understanding of reference variation across populations. This allows them to filter out some signals that in previous eras might have been labeled as disease-causing or pathogenic. But it's not diverse enough yet; we'll talk about that soon.

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