Case Study: Linking EHR, Genomic & Claims Data to Find Ultra-Rare Disease Patients

While there is no universal definition of a rare disease, a disease is
defined as rare in the United States if it affects less than 200,000
people (620 patients per million).Today, there are nearly 7,000
known rare diseases affecting 30 million people in the U.S.3 While
each disease affects a small patient population, as a category, rare
diseases have a significant impact on patients, their families, and the
healthcare system.


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