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DNA sequencing can help babies with symptoms not explained by newborn screening

With older children or adults who have spent years trying to pinpoint the cause of their conditions, speed is not as vital, he said. That’s why genome sequencing for patients at the new Undiagnosed Genetic Disease Clinic is done at UW-Madison’s Biotechnology Center, which can run so-called “long-read” sequencing that can provide even more answers. UW plans to study up to 500 patients at the clinic over five years, with the goal of diagnosing rare disorders and discovering new disease genes.